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Gene: Sfrp2 MGI:108078

Gene Summary

Name:

secreted frizzled-related protein 2

Synonyms:

Sdf5

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased bone mineral content	Sfrp2^C50F	HOM	Early adult	9.54×10^-07
kinked tail	Sfrp2^C50F	HOM	Early adult	5.45×10^-07
increased bone mineral content	Sfrp2^I153N	HOM	Early adult	7.25×10^-09
decreased lean body mass	Sfrp2^tm1Aksh	HOM	Early adult	2.38×10^-14
increased total body fat amount	Sfrp2^C50F	HOM	Early adult	8.18×10^-07
abnormal bone structure	Sfrp2^tm1Aksh	HOM	Early adult	1.14×10^-05
curly tail	Sfrp2^tm1Aksh	HOM	Early adult	4.49×10^-06
corneal vascularization	Sfrp2^tm1Aksh	HOM	Early adult	1.58×10^-06
abnormal tail movements	Sfrp2^C50F	HOM	Early adult	7.12×10^-05
decreased lean body mass	Sfrp2^I153N	HOM	Early adult	1.32×10^-05
increased startle reflex	Sfrp2^C50F	HOM	Early adult	7.85×10^-05
decreased bone mineral density	Sfrp2^I153N	HOM	Early adult	7.57×10^-08
decreased bone mineral density	Sfrp2^tm1Aksh	HOM	Early adult	2.10×10^-06
abnormal retina vasculature morphology	Sfrp2^tm1Aksh	HOM	Early adult	5.12×10^-09
kinked tail	Sfrp2^tm1Aksh	HOM	Early adult	1.53×10^-08
curly tail	Sfrp2^C50F	HOM	Early adult	1.07×10^-05
increased bone mineral content	Sfrp2^tm1Aksh	HOM	Early adult	8.34×10^-12
decreased lean body mass	Sfrp2^C50F	HOM	Early adult	8.28×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sfrp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Sfrp2 (0 diseases)
Human diseases predicted to be associated with Sfrp2 (1350 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sfrp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Brachydactyly, Type A1	Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,...	OMIM:112500
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Brachydactyly Type C	Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud...	ORPHA:93384
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac...	ORPHA:3314
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe...	ORPHA:93409
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Brachydactyly Type E	Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S...	ORPHA:93387
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	ORPHA:93396
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Brachydactyly, Type A3	Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi...	OMIM:112700
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh...	OMIM:112450
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor...	OMIM:226900
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx...	ORPHA:79445
Brachydactyly, Type A1, B	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact...	OMIM:607004
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi...	OMIM:272150
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t...	OMIM:309630
Familial Digital Arthropathy-Brachydactyly	Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of...	ORPHA:85169
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Cleidorhizomelic Syndrome	Diaphyseal undertubulation, Bilateral single transverse palmar creases, Clinodactyly of the 5th f...	ORPHA:1453
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of...	OMIM:607078
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ...	OMIM:182255
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Digital Arthropathy-Brachydactyly, Familial	Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha...	OMIM:606835
Brachydactyly, Type A4	Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ...	OMIM:112800
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type D	Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux	OMIM:113200
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Broad thumb, Short palm, Joint stiffness, Symphalangi...	ORPHA:3237
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal	OMIM:112410
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia	OMIM:276821
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P...	ORPHA:1278
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly	ORPHA:1078
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Adams-Oliver Syndrome 3	Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx...	OMIM:614814
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Talo-Patello-Scaphoid Osteolysis	Short 4th metacarpal, Synovitis, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaph...	ORPHA:50809
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt...	OMIM:271650
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay	Metatarsus adductus, Unusual dermatoglyphics	OMIM:112370
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Epiphyseal Dysplasia, Multiple, 3	Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, S...	OMIM:600969
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep...	OMIM:249600
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Brachydactyly-Arterial Hypertension Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad...	ORPHA:2249
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Jackson-Weiss Syndrome	Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t...	OMIM:123150
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo...	ORPHA:52056
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li...	ORPHA:1040
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Coloboma Of Macula-Brachydactyly Type B Syndrome	Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly	ORPHA:1471
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver...	OMIM:176240
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ...	OMIM:211369
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo...	ORPHA:75508
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif...	ORPHA:750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo...	ORPHA:93307
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Metatarsus Varus, Type I	Metatarsus adductus	OMIM:156520
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal...	ORPHA:1350
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly	OMIM:113300
Chromosome 8Q22.1 Duplication Syndrome	Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li...	OMIM:151200
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Single transverse ...	OMIM:227270
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Brachydactyly	OMIM:233270
Tetrasomy X	Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Joint hypermobility, Hip dy...	ORPHA:9
Arthrogryposis, Distal, Type 2B2	Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B...	OMIM:618435
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala...	OMIM:271700
Exostoses, Multiple, Type Ii	Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi...	OMIM:133701
Exostoses, Multiple, Type I	Genu valgum, Protuberances at ends of long bones, Short metacarpal, Madelung-like forearm deformi...	OMIM:133700
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ...	ORPHA:1275
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Acromicric Dysplasia	Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar...	OMIM:102370
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology	OMIM:259270
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan...	OMIM:180870
Acromicric Dysplasia	Abnormal femur morphology, Short metacarpal, Joint stiffness, Short palm, Fifth metacarpal with u...	ORPHA:969
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp...	OMIM:614078
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis, Short thumb, Brachydactyly	ORPHA:435804
Van Bogaert-Hozay Syndrome	Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand	OMIM:277150
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Upper...	ORPHA:3266
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx	OMIM:618724
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger	OMIM:140450
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B...	OMIM:615222
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria...	ORPHA:370010
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t...	OMIM:609052
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal	OMIM:604381
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Jackson-Weiss Syndrome	Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S...	ORPHA:1540
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Chromosome 2Q31.1 Duplication Syndrome	Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus	OMIM:613681
Acromegaloid Facial Appearance Syndrome	Micrognathia, Large hands, Joint hypermobility, Tapered finger, Short 5th metacarpal	OMIM:102150
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal	ORPHA:228190
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl...	OMIM:605282
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy...	OMIM:251450
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata...	OMIM:190351
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Joint hypermobility, Osteoporosis, Brachydactyly	ORPHA:2787
Coloboma Of Macula With Type B Brachydactyly	Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph...	OMIM:120400
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb	ORPHA:2935
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Banki Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo...	ORPHA:1228
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Symphalangism, Distal	Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr...	OMIM:185700
Epiphyseal Dysplasia, Baumann Type	Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,...	OMIM:610797
Radial Hemimelia	Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali...	ORPHA:93321
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Feingold Syndrome Type 2	Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly	ORPHA:391646
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
Eiken Syndrome	Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib...	ORPHA:79106
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Osteochondrosis Of The Metatarsal Bone	Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str...	ORPHA:564003
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Tarsal-Carpal Coalition Syndrome	Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit...	OMIM:186570
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty...	OMIM:601957
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Abnormal f...	ORPHA:2619
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Metaphyseal...	OMIM:156510
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal	ORPHA:2489
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh...	ORPHA:93308
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Acrodysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ...	ORPHA:950
Synostoses, Tarsal, Carpal, And Digital	Tarsal synostosis, Short metacarpal, Carpal synostosis, Metacarpophalangeal synostosis, Aplasia/H...	OMIM:186400
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Lower limb undergrowth, Forearm undergrowth	OMIM:218650
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones	OMIM:600384
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c...	OMIM:618395
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Abnormal metacarpal morphology, Duplication of the distal phalanx ...	ORPHA:973
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,...	ORPHA:3210
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Short foot, Small hand	OMIM:300261
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification...	OMIM:614613
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn...	OMIM:183600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Joint hypermobility, Clinodactyly of the 5th finger	ORPHA:238446
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy...	ORPHA:166016
Rhizomelic Dysplasia, Patterson-Lowry Type	Genu valgum, Rhizomelia, Short metacarpal, Deformed humeral heads, Coxa vara, Deviation of finger...	ORPHA:2831
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Proximal Symphalangism	Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of...	ORPHA:3250
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology...	ORPHA:429
Chromosome 20Q11-Q12 Deletion Syndrome	Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly	OMIM:614257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Postaxial hand polydactyly, Syndactyly	OMIM:615938
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:3268
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly	ORPHA:294975
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis, Brachydactyly	ORPHA:1937
Emery-Nelson Syndrome	Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy...	ORPHA:1927
Odontochondrodysplasia 1	Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy...	OMIM:184260
2q37 monosomy	Brachydactyly	DECIPHER:44
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Micrognathia, Broad hall...	OMIM:212780
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Brachydactyly	ORPHA:1277
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Limitation of joint mobility...	OMIM:609162
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility, Short middle phalanx of the 5th finger, Short middle pha...	ORPHA:63442
Hypochondroplasia	Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie...	OMIM:146000
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint...	ORPHA:1570
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi...	ORPHA:2502
Symphalangism, Proximal, 1A	Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto...	OMIM:185800
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ...	ORPHA:3152
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal	ORPHA:261524
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal...	OMIM:618728
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of...	OMIM:619135
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Zechi-Ceide Syndrome	Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap	OMIM:612916
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
20Q11.2 Microdeletion Syndrome	Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly, Talipes calcaneovalgus	ORPHA:444051
Roifman-Chitayat Syndrome	Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Cone-shaped epiphysis	OMIM:613328
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly	OMIM:619248
Cooks Syndrome	Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	OMIM:140000
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Radioulnar synost...	OMIM:614900
Aphalangy-Syndactyly-Microcephaly Syndrome	Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:1113
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t...	ORPHA:2632
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Single transverse palmar crease, Brachydactyly...	OMIM:615314
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density, Short femoral neck, Brachydac...	OMIM:618392
Pde4D Haploinsufficiency Syndrome	Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa...	ORPHA:439822
Stickler Syndrome, Type Iv	Genu valgum, Flat capital femoral epiphysis, Hypoplastic iliac wing, Short metacarpal, Coxa vara,...	OMIM:614134
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ...	OMIM:103580
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
W Syndrome	Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bow...	ORPHA:2804
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ...	ORPHA:1426
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Weyers Acrofacial Dysostosis	Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ...	OMIM:193530
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn...	ORPHA:3104
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal, ...	OMIM:619638
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Arthrogryposis, Distal, Type 7	Hammertoe, Metatarsus adductus, Micrognathia, Distal arthrogryposis, Cutaneous syndactyly of toes...	OMIM:158300
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic...	ORPHA:246
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Short meta...	OMIM:612350
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly	ORPHA:357175
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a...	OMIM:602418
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Brachydactyly, Joint hypermobility, Acromesomelia	ORPHA:40
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati...	OMIM:620019
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb	ORPHA:2150
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Pes cavus, Pes planus, Tapered finger, Short foot	OMIM:309585
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Intellectual Developmental Disorder, X-Linked 91	Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand	OMIM:300577
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Trichorhinophalangeal Syndrome Type 1	Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Camptodactyly of finger, Micr...	ORPHA:77258
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Metatropic Dysplasia	Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular roof, Long cocc...	OMIM:156530
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Abnormality o...	OMIM:300244
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo...	ORPHA:166011
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Chst3-Related Skeletal Dysplasia	Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Cubitus valgus, Short metacarpal, ...	ORPHA:263463
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly	OMIM:615162
Saul-Wilson Syndrome	Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ...	OMIM:618150
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo...	ORPHA:314795
Leri Pleonosteosis	Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Genu recurvatum, ...	ORPHA:2900
Gordon Syndrome	Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Limitation of joint mobility, Camptod...	ORPHA:376
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il...	ORPHA:1427
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp...	OMIM:611717
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Triphalangeal thumb, Absent middle phalanx of 5th finger, Bilateral triphalangeal thumbs, Brachyd...	OMIM:124480
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s...	OMIM:610017
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap...	ORPHA:56304
Keipert Syndrome	Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Joint hy...	OMIM:301026
Rubinstein-Taybi Syndrome 2	Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad...	OMIM:613684
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Marinesco-Sjogren Syndrome	Cubitus valgus, Short metatarsal, Short metacarpal, Flexion contracture, Pes planus, Coxa valga	OMIM:248800
Aurocephalosyndactyly	Craniosynostosis, 4-5 toe syndactyly	OMIM:109050
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Aase-Smith Syndrome	Abnormal hip bone morphology, Slender finger, Joint stiffness, Camptodactyly of finger, Aplasia/H...	ORPHA:916
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, F...	OMIM:616723
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Abnormal foot morphology, Anterior ...	OMIM:605274
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Brachydactyly, Premature osteoarthritis	OMIM:165800
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, Tapered finger, Camptodactyly of finger, Aplasia/Hypoplasia of the distal p...	ORPHA:3201
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger...	OMIM:601356
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypop...	OMIM:614813
Feingold Syndrome 2	2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, Short thumb, Shor...	OMIM:614326
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cutaneous syndactyly, Clinod...	ORPHA:166024
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga	OMIM:132450
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short ribs, Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Post...	OMIM:617405
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Aplasia/H...	ORPHA:337
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis...	OMIM:190350
Smith-Mccort Dysplasia 1	Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Limitation of joint mobility, Short met...	OMIM:607326
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:612462
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Split hand, Weakness of t...	ORPHA:324442
Variegate Porphyria, Childhood-Onset	Short finger, Short metacarpal	OMIM:620483
Anauxetic Dysplasia 3	Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Femoral bowing...	OMIM:618853
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,...	ORPHA:1406
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ...	OMIM:225280
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Cohen Syndrome	Genu valgum, Cubitus valgus, Short metatarsal, Single transverse palmar crease, Short metacarpal,...	OMIM:216550
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn...	ORPHA:2741
Jeune Syndrome	Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:474
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr...	ORPHA:1826
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis, Brachydactyly	ORPHA:2762
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Talipes, Genu recurvatum, Short metacarpal, Toe syndactyly	ORPHA:2611
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar...	OMIM:170390
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metacarpal heads, Flattened metatarsal heads, Arthritis, Wrist flexion contracture, Con...	OMIM:208250
Ruvalcaba Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol...	ORPHA:3121
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Limitation of joint mobility, Abnormal...	ORPHA:3098
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metacarpal heads, Osteoarthritis, Hip osteoarthritis, Flattened metatarsal heads	OMIM:271600
Sillence Syndrome	Short finger, Chess-pawn distal phalanges, Pes cavus, Large tarsal bones, Abnormal proximal phala...	ORPHA:3168
Osteoglophonic Dysplasia	Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, Short palm, Short ...	OMIM:166250
Carpenter Syndrome	Polydactyly, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand polydactyly, Broad ...	ORPHA:65759
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:2928
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Roifman Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Short metacarpal, Hip contractur...	OMIM:616651
Monosomy 5P	Finger syndactyly, Abnormality of bone mineral density, Microretrognathia, Joint hypermobility, R...	ORPHA:281
Diastrophic Dysplasia	Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur...	OMIM:222600
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla...	ORPHA:971
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe	OMIM:600430
Zechi-Ceide Syndrome	Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap	ORPHA:217017
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl...	OMIM:615777
Abnormal Hair, Joint Laxity, And Developmental Delay	Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle...	OMIM:261990
Crisponi/Cold-Induced Sweating Syndrome 2	Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Clinodactyl...	OMIM:610313
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Bowing of the legs, Lower limb undergrowth, Brachydactyly	OMIM:612847
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo...	ORPHA:2496
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Fused cervical vertebrae, Brachydactyly	ORPHA:1436
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Reduced bone mineral density, Macular edema, Macular exudate, Chorioretin...	ORPHA:891
Anauxetic Dysplasia 2	Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Metaphyseal dy...	OMIM:617396
Multiple Synostoses Syndrome 4	Tarsal synostosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus	OMIM:617898
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Ab...	ORPHA:2319
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, Short metacarpal, Micromeli...	ORPHA:1422
Spondyloepiphyseal Dysplasia, Nishimura Type	Small hand, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, Delayed epiphyseal...	OMIM:618618
Osteoporosis	Osteoporosis	OMIM:166710
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly	DECIPHER:46
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Madelung deformity, Radial bowing	DECIPHER:58
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis,...	OMIM:163400
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalan...	ORPHA:380
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr...	ORPHA:3409
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Syndactyly, Brachydactyly	OMIM:610023
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Aplasia ...	ORPHA:1352
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum...	ORPHA:957
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Clinodactyly of the 5th finger, Rh...	ORPHA:1515
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ...	ORPHA:85167
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda...	OMIM:615994
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia	ORPHA:1858
Split-Foot Deformity With Mandibulofacial Dysostosis	Split foot, Toe syndactyly, Micrognathia, Split hand	OMIM:183700
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ...	ORPHA:959
Temtamy Syndrome	Clinodactyly of the 5th finger, Micrognathia, Short toe, Brachydactyly, Joint hypermobility, Pes ...	ORPHA:1777
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral...	OMIM:215150
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr...	OMIM:607323
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Absent thumb, Brachydactyly, Cran...	ORPHA:96097
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Femoral bowing, Short ribs, Arachnodactyly, Slender metacarp...	OMIM:600920
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo...	ORPHA:321
Trichothiodystrophy 9, Nonphotosensitive	Joint hypermobility, Brachydactyly	OMIM:619692
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Lowry-Wood Syndrome	Irregular epiphyses, Dislocated radial head, Coxa vara, Epiphyseal dysplasia, Joint stiffness, Br...	ORPHA:1824
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Acrodysostosis 1 With Or Without Hormone Resistance	Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi...	OMIM:101800
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Neuropathy, Hereditary Sensory, Type If	Osteolytic defects of the phalanges of the hand, Metatarsal fracture, Hyporeflexia of lower limbs...	OMIM:615632
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Congenital hip disloc...	OMIM:263750
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Codas Syndrome	Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation, Brachydacty...	ORPHA:1458
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Ectrodactyly-Polydactyly	Split foot, Split hand, Postaxial hand polydactyly	OMIM:225290
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple...	ORPHA:363417
Laron Syndrome	Short long bone, Limb undergrowth	OMIM:262500
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato...	ORPHA:2251
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco...	ORPHA:64754
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal wide...	ORPHA:440354
Muenke Syndrome	Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the...	OMIM:602849
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short long bone, Short ribs, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb und...	OMIM:618961
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Joint hypermobility, Bowe...	OMIM:618019
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ...	ORPHA:90650
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam...	ORPHA:88630
Osteogenesis Imperfecta, Type Viii	Osteopenia, Slender long bone, Femoral retroversion, Tibial bowing, Femoral bowing, Short metacar...	OMIM:610915
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint hypermobility, Short 4th metacarpal, Short clavicles, Microretrognathia	OMIM:606220
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Cri-Du-Chat Syndrome	Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Metata...	OMIM:123450
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar...	OMIM:157900
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Craniosynostosis, Postaxial hand polydactyly, Y-shaped ...	OMIM:175700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon...	OMIM:143095
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Metaphyseal widening, Mesomelia, Brac...	OMIM:612813
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F...	OMIM:608940
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ...	ORPHA:2511
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Chromosome 15Q26-Qter Deletion Syndrome	Talipes equinovarus, Micrognathia, Short middle phalanx of finger, Brachydactyly	OMIM:612626
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo...	ORPHA:1657
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited...	OMIM:277590
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	2-4 toe cutaneous syndactyly, Short 4th metacarpal, Split hand, Tapered finger, Short 3rd metacar...	OMIM:618569
Acrootoocular Syndrome	Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Prominent calcaneus, Decreased...	ORPHA:2980
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Patellar hypoplasia, Brachydactyly, Short fourth metatarsal	ORPHA:464288
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tracheomalacia, Finge...	ORPHA:1001
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus	ORPHA:2183
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o...	OMIM:135100
Kuskokwim Syndrome	Joint stiffness, Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius	ORPHA:1149
Greenberg Dysplasia	Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr...	OMIM:215140
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Micrognathia, Brachyd...	ORPHA:444002
Pfeiffer Syndrome Type 1	Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Bicoronal synostosis, Broad thu...	ORPHA:93258
Ulnar-Mammary Syndrome	Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5...	OMIM:181450
Acrodysplasia Scoliosis	Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly	ORPHA:2956
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus...	OMIM:142900
Martsolf Syndrome 1	Talipes valgus, Slender ulna, Talipes equinovarus, Tracheomalacia, Short metacarpal, Osteopathia ...	OMIM:212720
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Radial bowing, Lim...	OMIM:605432
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Short distal phalanx of finger, ...	ORPHA:86822
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Short long bone, Brachydactyly	OMIM:615633
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Abruzzo-Erickson Syndrome	Short toe, Brachydactyly, Radioulnar synostosis, Ulnar deviation of finger, Toe syndactyly	ORPHA:921
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B...	ORPHA:79444
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m...	OMIM:602111
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Microcephaly 27, Primary, Autosomal Dominant	Short finger, Hip subluxation, Clinodactyly of the 5th finger, Metatarsus adductus, Joint hypermo...	OMIM:619180
Pentasomy X	Clinodactyly of the 5th finger, Camptodactyly of finger, Radioulnar synostosis, Micrognathia, Hip...	ORPHA:11
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Pes valgus, Clinodactyly of the 5th finger, Short metatarsal, Sanda...	ORPHA:96148
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Clinodactyly of the 5th finger, Abnormal vertebral segmen...	OMIM:244600
Intellectual Developmental Disorder, Autosomal Dominant 59	Short palm, Short foot, Brachydactyly	OMIM:618522
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short ribs, Short long bone, Hypopla...	ORPHA:93296
C Syndrome	Radial deviation of finger, Dislocated radial head, Postaxial hand polydactyly, Short metacarpal,...	OMIM:211750
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Hip subluxation, Bilateral camptodactyly, Prominent fingertip pads, Short fourth metatarsal, Over...	OMIM:619557
Auriculoosteodysplasia	Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d...	ORPHA:114
Van Maldergem Syndrome 1	Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Tracheomalacia, Short clavicles, Camp...	OMIM:601390
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Small hand	OMIM:614684
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Clinodactyly, Micrognathia, Brachydactyly, S...	OMIM:300590
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Pelviscapular Dysplasia	Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen...	ORPHA:93333
Larsen Syndrome	Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Tr...	OMIM:150250
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Brachydactyly, Palmoplantar keratoderma, Joint hypermobility, Cone-...	ORPHA:2824
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Joint hypermobilit...	OMIM:619451
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Finger aplasia	OMIM:276822
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Syndactyly, Unilateral brachyd...	OMIM:173800
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Amelia, Decreased skull ossification, Syndactyly, Toe syndactyly	OMIM:601163
Opsismodysplasia	Abnormal metaphysis morphology, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnormally...	ORPHA:2746
Aminopterin Syndrome Sine Aminopterin	Arachnodactyly, Rudimentary postaxial polydactyly of hands, Micrognathia, Syndactyly, Brachydacty...	OMIM:600325
Weill-Marchesani Syndrome	Limitation of joint mobility, Short thumb, Brachydactyly	ORPHA:3449
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short...	ORPHA:2307
Microduplication Xp11.22P11.23 Syndrome	Pes cavus, Toe syndactyly, Pes planus	ORPHA:217377
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Small epiphyses, Short long bone, Knee dislocation, Joint hypermobility, Adducted thumb, Advanced...	OMIM:620269
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Lowry-Wood Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Irregular epiphyses, Small epiphyses, El...	OMIM:226960
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Anauxetic Dysplasia 1	Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os...	OMIM:607095
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri...	OMIM:617866
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Absent thumb, Short thumb, Small thenar em...	OMIM:613390
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Upper limb undergrowth, Short 3rd metacarpal, Short...	OMIM:169400
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Pitt-Hopkins Syndrome	Narrow foot, Pes valgus, Single transverse palmar crease, Short fifth metatarsal, Clubbing, Promi...	OMIM:610954
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hyp...	OMIM:151210
Weaver Syndrome	Abnormal metaphysis morphology, Pes cavus, Sandal gap, Finger syndactyly, Broad thumb, Camptodact...	ORPHA:3447
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment...	OMIM:200980
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Van Maldergem Syndrome 2	Osteopenia, Short 4th metacarpal, Hip subluxation, Tracheomalacia, Short clavicles, Short fourth ...	OMIM:615546
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Holt-Oram Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o...	ORPHA:392
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Radial bowing, Brachydactyly, Short femoral neck	OMIM:602152
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia	OMIM:600092
Neuralgic Amyotrophy	Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens...	ORPHA:79443
Thanatophoric Dysplasia, Type Ii	Flared metaphysis, Short greater sciatic notch, Short ribs, Hypoplastic ilia, Micromelia, Brachyd...	OMIM:187601
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Flexion contracture, Clinodactyly, Syndactyly	OMIM:619091
Hypomelanosis Of Ito	Radial deviation of finger, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Clinodactyly	OMIM:300337
Larsen Syndrome	Broad distal phalanx of finger, Craniosynostosis, Finger syndactyly, Laryngotracheomalacia, Abnor...	ORPHA:503
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth	OMIM:602200
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Joint hypermobility, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly	ORPHA:1390
Developmental And Epileptic Encephalopathy 95	Short 4th metacarpal, Clinodactyly of the 5th finger, Single transverse palmar crease, Short four...	OMIM:618143
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Weill-Marchesani Syndrome 3	Joint stiffness, Brachydactyly	OMIM:614819
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl...	OMIM:608328
Craniofrontonasal Dysplasia	Clinodactyly of the 5th finger, Sandal gap, Craniosynostosis, Finger syndactyly, Camptodactyly of...	ORPHA:1520
Spastic Paraplegia 20, Autosomal Recessive	Pes cavus, Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Flexion contracture...	OMIM:275900
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra...	OMIM:617247
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac...	OMIM:617895
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Pos...	OMIM:304120
Potocki-Shaffer Syndrome	Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachydactyly	OMIM:601224
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr...	OMIM:305390
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,...	OMIM:268310
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Decreased calvarial ossificati...	OMIM:614592
Stuve-Wiedemann Syndrome 2	Short long bone, Bowing of the long bones, Camptodactyly	OMIM:619751
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Limited elbow extension, Distal symphalangism, Clinodactyly of the 5th finger, Ulnar bowing, Flar...	OMIM:210720
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Hall-Riggs Syndrome	Osteoporosis, Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Cardiospondylocarpofacial Syndrome	Short palm, Synostosis of carpal bones, Brachydactyly	ORPHA:3238
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	OMIM:184705
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility	ORPHA:171866
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Decreased calvarial ossification, Micrognathia, Brachydactyly, Craniosynostosi...	OMIM:618265
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand	OMIM:603543
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Osteopenia, Lambdoidal craniosynostosis, Osteoporosis, Ankle clonus	OMIM:615398
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Micrognathia, Metaphyseal dysplasia, Metaphyseal chondrodysplasia, Brachydactyl...	OMIM:250410
Roifman Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Broad femoral head, I...	ORPHA:353298
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Micrognathia, Brachydactyly, Craniosynostosis	ORPHA:2145
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Refsum Disease, Classic	Pes cavus, Short fourth metatarsal	OMIM:266500
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization, Finger joint hypermobility	OMIM:615225
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Genu valgum, Abnormal metacarpal morphology, Joint stiffness, Brachydactyly, Short distal phalanx...	ORPHA:1295
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Abnormal metacarpal morphology, Sandal gap, Abnormal finger morph...	ORPHA:3051
Microcephaly-Micromelia Syndrome	Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi...	OMIM:251230
Nager Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality of th...	ORPHA:245
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph...	ORPHA:710
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, S...	OMIM:258480
Schneckenbecken Dysplasia	Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Bi...	OMIM:269250
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Cutaneous finger syndactyly, Short middle phalanx of the 5th finger, Flexion contracture, Hip dis...	OMIM:203550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Generalized joint hypermobility, Hip subluxation, Genu valgum, Flat capital femoral epiphysis, Me...	ORPHA:93360
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Pes planus, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Craniosy...	ORPHA:166035
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ...	OMIM:272460
Alopecia-Intellectual Disability Syndrome	Split hand, Flexion contracture, Brachydactyly	ORPHA:2850
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn...	ORPHA:93316
Rudiger Syndrome	Single transverse palmar crease, Short digit, High axial triradius, Flexion contracture	OMIM:268650
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Narrow palm, Short foot, Small hand	ORPHA:177910
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Limitation of joint mobility, Arachnodactyly, Camptodacty...	ORPHA:2994
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Flared metaphysis, Metaphyseal cupping, Increased bone mineral density, Short ribs, S...	ORPHA:50945
Marinesco-Sjögren Syndrome	Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, Brachydactyly, Hip dyspla...	ORPHA:559
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short finger, Small epiphyses, Flared iliac wing, Coxa vara, Metaphyseal cupping of metacarpals, ...	OMIM:300232
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Pes planus, Genu valgum, Small epiphyses, Short long bone, Knee dislocation, Hip contracture, Mic...	OMIM:618363
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb, Finger syndacty...	ORPHA:1825
Al-Raqad Syndrome	Joint hypermobility, Brachydactyly, Sandal gap	OMIM:616459
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Osteopenia, Reduced bone mineral density, Metaphyseal striations, Aplasia...	ORPHA:2909
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachydactyly	ORPHA:2377
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Failure to thrive, Corneal neovascularization, Keratoconjunctivitis sicca	OMIM:617388
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Short foot, Camptodactyly, Narrow palm, Flexion contracture, ...	OMIM:615547
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Corneal neovascularization, Reduced bone mineral density, Tarsal sclerosis, Sclero...	ORPHA:404454
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Join...	ORPHA:1147
Refsum Disease	Pes cavus, Abnormal foot morphology, Hammertoe, Short metacarpal, Abnormal epiphysis morphology	ORPHA:773
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Cubitus valgus, Abnormal metatarsal morphology, Short long bone, Aplasia/Hypoplasia involving the...	ORPHA:163654
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Fibrochondrogenesis 2	Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Hypop...	OMIM:614524
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures	OMIM:166260
Frontometaphyseal Dysplasia 2	Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Short meta...	OMIM:617137
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Limited elbow extension and supination, Short thumb, Brachydactyly, Joint...	ORPHA:401935
Crane-Heise Syndrome	Finger syndactyly, Decreased skull ossification, Abnormally ossified vertebrae, Joint stiffness, ...	ORPHA:1512
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Short toe, Short 5th me...	OMIM:617877
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Genu recurvatum, Joint stiffness,...	ORPHA:137834
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Single transverse palmar crease, Brachydactyly	OMIM:620062
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Short finger, 2-3 toe syndactyly, Tapered finger, Long fingers, Micrognathia, Broad hallux, Short...	OMIM:618659
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Brachydactyly, Clinodacty...	OMIM:148820
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Acromicria, Short foot, Micrognathia, Clinodactyly, Small hand	ORPHA:254525
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi...	ORPHA:2879
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Limited hip extension, Rhizomelia, Ulnar b...	OMIM:100800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl...	OMIM:271665
Laron Syndrome	Micrognathia, Short toe, Osteoarthritis, Brachydactyly, Abnormality of the elbow	ORPHA:633
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh...	OMIM:620073
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor...	ORPHA:420794
Curry-Jones Syndrome	Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx,...	ORPHA:1553
Periventricular Nodular Heterotopia 1	Short finger, Clinodactyly, Syndactyly	OMIM:300049
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Abnormal radial ray morphology, Absent thumb	OMIM:617784
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Short long...	ORPHA:1190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short long bone, Talipes equinovarus, Vertebral fusion	OMIM:618845
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	ORPHA:3186
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po...	OMIM:615503
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening,...	OMIM:614376
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Clinodactyly of the 5th finger, Short metatarsal, Clinodactyly of the 2nd finger, Con...	OMIM:266920
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Codas Syndrome	Pes valgus, Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Short...	OMIM:600373
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Micrognathia, Brachydactyly, Craniosynostosis	ORPHA:2645
Adams-Oliver Syndrome 6	Foot oligodactyly, Syndactyly, Brachydactyly	OMIM:616589
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Short long bone, Short ribs, Bowing of the l...	OMIM:224400
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Abnormality of the lower limb, Steep acetabular roof, Hypoplastic is...	ORPHA:313855
Coffin-Lowry Syndrome	Broad finger, Abnormal diaphysis morphology, Craniofacial hyperostosis, Narrow iliac wing, Short ...	ORPHA:192
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl...	OMIM:101600
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Brachydactyly, Epiphyseal stippling	ORPHA:1914
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Autosomal Dominant Omodysplasia	Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar dislocation, ...	ORPHA:93328
Frontonasal Dysplasia 1	Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Campt...	OMIM:136760
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short 4th metacarpal, Micrognathia, Small hand	ORPHA:1787
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond...	ORPHA:93317
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Arthrogrypos...	OMIM:236500
Acrofrontofacionasal Dysostosis	Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, S...	ORPHA:1784
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,...	ORPHA:3138
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctivitis sicca, Tela...	OMIM:278730
Kid Syndrome	Corneal neovascularization, Delayed pubic bone ossification, Corneal erosion, Knee flexion contra...	ORPHA:477
Non-Distal Deletion 10Q	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Overlapping fingers, ...	ORPHA:1581
Alagille Syndrome	Short distal phalanx of finger, Micrognathia, Clinodactyly of the 5th finger, Hypoplasia of the ulna	ORPHA:52
Seckel Syndrome 1	Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan...	OMIM:210600
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Chitayat Syndrome	Hallux valgus, Brachydactyly, Tracheomalacia	OMIM:617180
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Oculomaxillofacial Dysostosis	Abnormality of the humerus, Camptodactyly of finger, Micrognathia, Brachydactyly, Adducted thumb	ORPHA:1794
Acrofacial Dysostosis, Catania Type	Short palm, Micrognathia, Single transverse palmar crease, Brachydactyly	OMIM:101805
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Micromelia, Joint stiffness, Brachydac...	ORPHA:2655
Eales Disease	Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ...	ORPHA:40923
Arthrogryposis, Distal, Type 4	Osteopenia, Equinovarus deformity, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Si...	OMIM:609128
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos...	OMIM:201000
Geleophysic Dysplasia 1	Osteopenia, Short long bone, Short foot, Wrist flexion contracture, Irregular capital femoral epi...	OMIM:231050
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth	OMIM:613124
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Short ribs, Microme...	OMIM:614091
Ring Chromosome 21 Syndrome	Narrow palm, Syndactyly, Fused thoracic vertebrae, Clinodactyly, Small hand	ORPHA:1445
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra...	OMIM:218600
Joubert Syndrome 33	Syndactyly	OMIM:617767
Holoprosencephaly-Craniosynostosis Syndrome	Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Brachydactyly, Short distal phalanx...	ORPHA:2163
Achondrogenesis, Type Ia	Hypoplasia of the radius, Hypoplastic sacrum, Talipes equinovarus, Severe limb shortening, Unossi...	OMIM:200600
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Decreased c...	OMIM:616229
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Genu valgum, Reduced bone mineral density, Abnormal foot morphology, Smal...	ORPHA:94068
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Singl...	OMIM:601358
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte...	OMIM:609638
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Spondyloepimetaphyseal Dysplasia, Krakow Type	Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th finger, Rhizomelia,...	OMIM:618162
Camptodactyly Syndrome, Guadalajara Type 1	Cubitus valgus, Scapular winging, Camptodactyly of finger, Short toe, Brachydactyly, Short distal...	ORPHA:1327
Trisomy 8P	Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short 1st metacarpal, Clinodactyly o...	ORPHA:264450
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi...	ORPHA:85166
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Cran...	ORPHA:508533
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o...	ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes cavus, Sandal gap, Brachydactyly, Joint hypermobility, Pes planus, Short foot, Small hand	OMIM:300354
Ectodermal Dysplasia With Mental Retardation And Syndactyly	2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:600906
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Joint stiffness, Limb undergrowth, Brachydactyly, Abnormal epiphy...	ORPHA:2107
6P22 Microdeletion Syndrome	Finger syndactyly, Short neck, Clinodactyly, Patent ductus arteriosus	ORPHA:251046
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,...	OMIM:184460
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Distal lower limb muscle weakness, Syndactyly	OMIM:615284
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl...	ORPHA:56305
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Proximal placement of thumb, Syndactyly, Brachydactyly, Microretrognathia, Short dist...	OMIM:615789
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Clubbing, Postaxial hand polydactyly, Recurrent pate...	OMIM:619143
Shashi-Pena Syndrome	Osteoporosis, Deep palmar crease, Short metacarpal, Cervical C2/C3 vertebral fusion	OMIM:617190
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Micrognathia, Brachydactyly	ORPHA:2863
Lujan-Fryns Syndrome	Camptodactyly of finger, Arachnodactyly, Micrognathia, Brachydactyly, Joint hypermobility	ORPHA:776
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Postaxial hand ...	OMIM:615630
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi...	ORPHA:93352
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Osteoporosis, Syndactyly, Camptodactyly	OMIM:616006
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Orofaciodigital Syndrome Xvii	Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala...	OMIM:617926
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology	ORPHA:261272
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han...	OMIM:252100
Autosomal Recessive Kenny-Caffey Syndrome	Calvarial osteosclerosis, Decreased skull ossification, Thin long bone diaphyses, Cortical thicke...	ORPHA:93324
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Tapered finger, Brachydactyly	ORPHA:317
Fetal Encasement Syndrome	Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Aarskog-Scott Syndrome	Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Single transverse palmar crease, Genu...	ORPHA:915
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Pfeiffer Syndrome Type 2	Deviation of the thumb, Short hallux, Finger syndactyly, Tracheomalacia, Limitation of joint mobi...	ORPHA:93259
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Aarskog-Scott Syndrome	Radial deviation of finger, Joint hypermobility, Hyperextensibility of the finger joints, Single ...	OMIM:305400
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Broad foot, Short toe, Brachydactyly	ORPHA:3085
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os...	OMIM:617425
Jansen-De Vries Syndrome	Short foot, Brachydactyly, Small hand	OMIM:617450
Pitt-Hopkins Syndrome	Narrow foot, Pes valgus, Short metatarsal, Single transverse palmar crease, Broad fingertip, Pes ...	ORPHA:2896
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Joint hypermobility, Syndactyly	OMIM:602501
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Gracile Bone Dysplasia	Slender long bone, Decreased skull ossification, Brachydactyly, Flared metaphysis	OMIM:602361
Grange Syndrome	Syndactyly, Brachydactyly, Finger clinodactyly, Recurrent fractures, Increased susceptibility to ...	OMIM:602531
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Joint hypermobility, Talipes e...	ORPHA:3306
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,...	ORPHA:2839
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long...	ORPHA:1106
Warburg-Cinotti Syndrome	Corneal neovascularization, Ankle flexion contracture, Osteolytic defects of the phalanges of the...	OMIM:618175
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Cleidocranial Dysplasia	Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph...	ORPHA:1452
Waardenburg Syndrome Type 3	Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b...	ORPHA:896
Arthrogryposis, Distal, Type 3	Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Decreased...	OMIM:114300
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Prominent fingertip pads, Camptodactyly, Broad thumb, Micrognathia, Mesomelia, Broad ...	OMIM:618529
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Melena, Keratoconjunctivitis, Cataract, Opacification of the corneal ...	OMIM:158310
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Joint hyper...	ORPHA:370930
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Vitreoretinochoroidopathy	Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc...	OMIM:193220
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Genu valgum, Talipes, Cone-shaped epiphyses of the ph...	ORPHA:502
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Camptodactyly, Micrognathia, Brachydactyly, Clinodactyly	OMIM:613604
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Camptodactyly, Micrognathia, Syndactyly, Absent palmar crease	OMIM:614230
Specific Granule Deficiency 2	Osteopenia, Brachydactyly, Sandal gap	OMIM:617475
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Focal Dermal Hypoplasia	Midclavicular hypoplasia, Short 4th metacarpal, Short finger, Midclavicular aplasia, Short metata...	OMIM:305600
Achondrogenesis, Type Ii	Short tubular bones of the hand, Abnormal foot morphology, Hypoplastic iliac wing, Short long bon...	OMIM:200610
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Aplasia/hypoplasia involv...	ORPHA:221016
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Single transverse palmar crease, Short metacarpal, C...	OMIM:616145
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Talipes, Pseudoepiphyses of s...	OMIM:107480
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, S...	ORPHA:1005
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Limitation of joint mobility, Micromelia, Brachydactyly, Joint hy...	ORPHA:93274
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Short ribs,...	ORPHA:2347
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ...	ORPHA:989
Fountain Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Craniofacial hyperostosis, Coarse metap...	ORPHA:3219
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Limited elbow extension, Osteopenia, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Sma...	OMIM:271510
Craniosynostosis 2	Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Brachydactyly, Craniosynostosis	OMIM:604757
Bartsocas-Papas Syndrome	Talipes, Finger syndactyly, Synostosis of joints, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:1234
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia	OMIM:149000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Pes cavus, Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Fanconi Anemia	Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ...	ORPHA:84
Silver-Russell Syndrome 3	Elbow contracture, Clinodactyly of the 5th finger, Syndactyly, Small hand	OMIM:616489
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Short palm, Brach...	ORPHA:2176
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ...	OMIM:156400
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Joint hypermobility, Finger syndactyly, Broad thumb, Abnormal dis...	ORPHA:783
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta...	ORPHA:221008
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po...	OMIM:217085
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Triangular tibia, Joint hypermobility, Toe syndactyly, ...	OMIM:619218
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Short long bone, Joint stiffness, ...	OMIM:619184
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Bowing of the long bones, Microme...	ORPHA:1798
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Kury-Isidor Syndrome	Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,...	OMIM:619762
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap...	ORPHA:251014
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation...	ORPHA:1323
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndactyly, 2-4 finger syndact...	OMIM:613573
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Phocomelia, Vertebral segmentation defect, Split hand	ORPHA:3004
White Forelock With Malformations	Finger syndactyly, Joint hypermobility, Clinodactyly of the 5th finger	ORPHA:2475
Muenke Syndrome	Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped epiphysis, Carpa...	ORPHA:53271
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Micrognathia, Brachydactyly	OMIM:614526
Temtamy Syndrome	Short 2nd toe, Micrognathia, Brachydactyly, Pes planus, Talipes equinovarus, Hip dislocation	OMIM:218340
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Pycnodysostosis	Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of ...	OMIM:265800
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th...	OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sacral dimple, Sandal gap, Scoliosis, Hyperlordosis, Kyphosis, Po...	OMIM:615761
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal metacarpal morphology, Brachydactyly	ORPHA:93262
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Micrognathia, Short toe, Brac...	OMIM:620072
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Dis...	OMIM:616007
15Q24 Microdeletion Syndrome	Abnormal thumb morphology, Proximal placement of thumb, Abnormal toe morphology, Brachydactyly, J...	ORPHA:94065
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Feingold Syndrome	Clinodactyly of the 5th finger, Deviation of the 2nd finger, Micrognathia, Brachydactyly, Toe syn...	ORPHA:1305
Pseudoaminopterin Syndrome	Talipes valgus, Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Limited elbow...	ORPHA:221120
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb	OMIM:613951
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, ...	ORPHA:3194
16P12.1P12.3 Triplication Syndrome	2-3 toe syndactyly, Prominent fingertip pads, Brachydactyly, Short 5th finger, Hallux valgus, Tap...	ORPHA:485405
Pfeiffer Syndrome Type 3	Short hallux, Finger syndactyly, Tracheomalacia, Limitation of joint mobility, Broad thumb, Hallu...	ORPHA:93260
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, K...	ORPHA:488642
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal cupping, Short long ...	OMIM:613320
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Pes cavus, Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Toe syndactyly	ORPHA:3224
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal shoulder morphology, Abnormality of the wrist, Abnormal femoral neck/head morphology, Hi...	ORPHA:85438
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De...	OMIM:216340
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Slender long bone, Decreased skull ossification, Short palm, Short foot...	OMIM:244460
ERI1-related disease	Limited elbow extension, Osteopenia, Clinodactyly of the 5th finger, Dislocated radial head, Olig...	OMIM:608739
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Short neck, Ta...	OMIM:607131
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ...	OMIM:620076
Bartsocas-Papas Syndrome 1	Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Arthrogryposis multiplex co...	OMIM:263650
Joubert Syndrome 10	Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:300804
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Absent thumb, Short thumb, Short 1st metacarpal	OMIM:609053
Spinocerebellar Ataxia, Autosomal Recessive 20	Talipes equinovarus, Brachydactyly, Clinodactyly, Camptodactyly	OMIM:616354
Radio-Renal Syndrome	Hypoplasia of the radius, Micromelia, Short palm, Micrognathia, Brachydactyly, Abnormality of the...	ORPHA:3015
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Pallister-Hall Syndrome	Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Y-shaped metatarsals, Oli...	OMIM:146510
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo...	ORPHA:140
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh...	ORPHA:1786
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short humerus, Short metacarpal, Brachydactyly	ORPHA:508542
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Micrognathia, Short dista...	OMIM:180860
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease...	OMIM:311900
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Aplasia of the ulna, Radial deviation of finger, Ankle flexion contractur...	OMIM:268300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Limit...	ORPHA:1865
Nephronophthisis 15	Polydactyly	OMIM:614845
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Acrofrontofacionasal Dysostosis 1	Broad thumb, Short distal phalanx of finger, Acetabular dysplasia, Short metacarpal	OMIM:201180
Geleophysic Dysplasia 3	Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move...	OMIM:617809
Filippi Syndrome	Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly, Finger clinodactyly	OMIM:272440
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Calvarial osteosclerosis, Camptodactyly, Broad thumb,...	OMIM:616331
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Wide anterior fontanel, Scoliosis, Prominent fingertip pads, Camp...	OMIM:300963
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Cranioectodermal Dysplasia 4	Broad distal phalanx of finger, Broad phalanx of the toes, Cutaneous finger syndactyly, Hip dyspl...	OMIM:614378
Joubert Syndrome 18	Kyphoscoliosis, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, T...	OMIM:614815
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip...	OMIM:210710
Fibrochondrogenesis 1	Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Clinodactyly of ...	OMIM:228520
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Micrognathia, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia	OMIM:618381
Acrofacial Dysostosis 1, Nager Type	Limited elbow extension, Hypoplasia of the radius, Radial deviation of finger, Triphalangeal thum...	OMIM:154400
Weill-Marchesani Syndrome 4	Joint stiffness, Brachydactyly	OMIM:613195
Acrofrontofacionasal Dysostosis 2	Sacral dimple, Wide anterior fontanel, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Pycnodysostosis	Short finger, Rhizomelia, Generalized osteosclerosis, Increased bone mineral density, Hypoplastic...	ORPHA:763
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Kniest Dysplasia	Fused cervical vertebrae, Enlarged metaphyses, Delayed epiphyseal ossification, Delayed patellar ...	ORPHA:485
Poland Syndrome	Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Reduced bo...	ORPHA:2911
X Small Rings	Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syn...	ORPHA:96201
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing	ORPHA:1765
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ...	OMIM:308050
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Broad hallux, Short 5th finger, Cu...	OMIM:600987
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Adams-Oliver Syndrome	Talipes, Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abnormality of the upper ...	ORPHA:974
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Micrognathia, 2-4 toe syndacty...	OMIM:614099
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t...	OMIM:607143
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Bilateral single transverse palmar creases, Large hands, Brachydactyly	ORPHA:1770
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormality of the elbow, Brachydactyly	ORPHA:2701
Coffin-Siris Syndrome 6	Micrognathia, Clinodactyly, Brachydactyly	OMIM:617808
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, R...	OMIM:614701
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Tonne-Kalscheuer Syndrome	Broad thumb, Pes planus, Micrognathia, Brachydactyly	OMIM:300978
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormally ossified vertebrae, Joint stiffness, Hand polydactyly,...	ORPHA:2167
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f...	OMIM:149730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity...	OMIM:175780
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Pes cavus, Clinodactyly of the 5th finger, Short meta...	OMIM:261540
Rin2 Syndrome	Joint hypermobility, Pes planus, Brachydactyly, Increased susceptibility to fractures	ORPHA:217335
Sponastrime Dysplasia	Short long bone, Mesomelia, Metaphyseal irregularity, Joint hypermobility, Flattened humeral epip...	ORPHA:93357
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Short long bone, Decreased skull ossification, Micrognathia, Ulnar ...	OMIM:263210
22Q11.2 Deletion Syndrome	Optic atrophy, Corneal neovascularization, Gastrointestinal hemorrhage, Arthritis, Hypertensive c...	ORPHA:567
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Increased susceptibility to fractures, Abnormal bone ossification, Genu valgum, Reduced bone mine...	ORPHA:93315
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Brachyd...	ORPHA:2916
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Postaxial polydactyly, Patent ductus arteriosus, Mesoaxial hand polydactyly...	OMIM:615996
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short ribs, Micromelia, Camptodact...	ORPHA:2021
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly	OMIM:614800
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,...	ORPHA:3404
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Brachydactyly, Sandal gap	OMIM:614607
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Osteolytic defects of the phalanges of the hand, Metat...	OMIM:161700
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Micrognathia, Brachydactyly	ORPHA:2083
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Short palm, Brachydactyly	ORPHA:3217
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Thanatophoric Dysplasia, Type I	Short greater sciatic notch, Flared metaphysis, Short long bone, Femoral bowing, Bowing of the lo...	OMIM:187600
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Plantar pits, Palmar pits, Short ribs, Vertebral fusion, Brach...	OMIM:109400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Broad thumb, Ar...	OMIM:619721
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Short long bone, Split hand, Short ribs, Limitation of joint mobility, Ir...	OMIM:252600
Acrocraniofacial Dysostosis	Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Craniosynostosis, Partial duplica...	ORPHA:949
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Kne...	ORPHA:435938
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Tracheomalacia, Short palm, Micrognathia, Syndactyly, Brachydactyly,...	OMIM:217980
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Cubitus valgus, Short metatarsal, Short metacarpal, Brachydactyly, Short distal phalanx of finger	OMIM:617157
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea...	OMIM:612651
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Ectrodactyly, Micrognathia, Syndactyly, Short 5th fi...	ORPHA:397590
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ...	ORPHA:198
Smith-Magenis Syndrome	Short palm, Abnormal forearm morphology, Brachydactyly, Broad palm, Pes planus	OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Talipes calcaneovarus, Micrognathia, Large hands, Flexion contracture, Brachydact...	OMIM:300534
Trisomy 8Q	Deep palmar crease, Bone cyst, Joint stiffness, Camptodactyly of finger, Micrognathia, Brachydactyly	ORPHA:1752
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly	ORPHA:73246
Premature Aging Syndrome, Penttinen Type	Slender long bone, Recurrent fractures, Tibial bowing, Osteolytic defects of the distal phalanges...	OMIM:601812
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Brachydactyly, Sandal gap	ORPHA:2180
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Clinodactyly, Brachydactyly	OMIM:614261
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, Short neck, C...	ORPHA:2332
Cantú Syndrome	Abnormal metaphysis morphology, Deep plantar creases, Short hallux, Finger syndactyly, Osteoporos...	ORPHA:1517
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Suleiman-El-Hattab Syndrome	Polydactyly, Single transverse palmar crease, Microretrognathia, Brachydactyly, Clinodactyly	OMIM:618950
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Foot polydactyly, Hand polydactyly, Joint hypermobility, Toe syndactyly	ORPHA:60040
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short long bone, Sh...	ORPHA:3003
45,X/46,Xy Mixed Gonadal Dysgenesis	Short 4th metacarpal, Cubitus valgus, Short metatarsal, Micrognathia, Muscle hypertrophy of the l...	ORPHA:1772
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly	OMIM:119580
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Joint hypermobility	ORPHA:1252
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Cranial hyperostosis, Palmoplantar keratoderma, Clinodactyly of t...	ORPHA:2710
Ellis-Van Creveld Syndrome	Genu valgum, Talipes equinovarus, Hypoplastic iliac wing, Short long bone, Postaxial hand polydac...	OMIM:225500
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,...	OMIM:277600
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion, Metatarsus a...	OMIM:620494
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Coxa vara...	ORPHA:2637
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short finger, Broad finger, Short clavicles, Short fifth metatarsal, Single transverse palmar cre...	OMIM:619841
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ...	ORPHA:794
Czeizel-Losonci Syndrome	Spina bifida occulta, Hitchhiker thumb, Single transverse palmar crease, Ectrodactyly, Split foot...	ORPHA:2437
Oliver Syndrome	Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi...	ORPHA:2920
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ...	OMIM:617061
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Bowed humerus, Short long bone, Short humerus, Flexion contracture, Brachydactyly, Trident pelvis	OMIM:619479
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Clinodactyly of the 5th finger, Brachydactyly, Cubitus valgus	OMIM:620237
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Joubert Syndrome 23	Polydactyly	OMIM:616490
Joubert Syndrome 7	Postaxial polydactyly, Scoliosis, Genu valgum, Postaxial hand polydactyly	OMIM:611560
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly	OMIM:618727
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Meckel Syndrome, Type 10	Sacral dimple, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation ...	OMIM:614175
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx...	ORPHA:2636
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Abnormality of the hand, Abnormal shoulder morphology, Abnormality of the wrist, ...	ORPHA:85408
Trisomy 9P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:236
9Q21.13 Microdeletion Syndrome	Polydactyly, Scoliosis, Vertebral segmentation defect, Hip dysplasia	ORPHA:531151
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger	ORPHA:231140
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,...	OMIM:269500
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Brachydactyly, Pes valgus	OMIM:619995
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Craniosynos...	ORPHA:178303
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod...	ORPHA:2311
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Short thumb, Absent thumb, 2-3 finger syndactyly	OMIM:603467
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Postaxial polydactyly, Micrognathia, Broad hallux, Cong...	ORPHA:435638
Chand Syndrome	Short fifth metatarsal	ORPHA:1401
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Early ossification of capital femoral epiphyses, Aplasia/Hypoplasia in...	ORPHA:397715
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Abnormal foot morphology, Camptodactyly, Arthrogryposis multiplex congenita,...	OMIM:617822
Meckel Syndrome, Type 8	Polydactyly, Short neck, Talipes equinovarus	OMIM:613885
Meckel Syndrome 14	Talipes, Postaxial hand polydactyly, Bowing of the long bones, Postaxial polydactyly, Decreased c...	OMIM:619879
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly, Congenital contracture	OMIM:620156
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Dyssegmental Dysplasia, Silverman-Handmaker Type	Short long bone, Bowing of the long bones, Micromelia, Micrognathia, Talipes equinovarus	OMIM:224410
Cardiofacioneurodevelopmental Syndrome	Brachydactyly, Micrognathia, Clinodactyly of the 5th finger, Camptodactyly	OMIM:619123
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor...	OMIM:218330
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Single transverse palmar crease, Short long bone, Camptodactyly, Broad fe...	OMIM:611209
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Abnormal foot morphology, Camptodactyly, Syndactyly, Arthrogryposis-like...	ORPHA:369891
Short-Rib Thoracic Dysplasia 12	Short finger, Short long bone, Short ribs, Short palm, Broad foot, Short toe, Limb undergrowth, B...	OMIM:269860
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Brachydactyly, Cl...	ORPHA:1292
Short Syndrome	Joint hypermobility, Short palm, Brachydactyly	ORPHA:3163
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Single trans...	OMIM:610759
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Corneal ulceration, Limbal stem cell defi...	ORPHA:2363
Apert Syndrome	Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Finger synd...	OMIM:101200
Hamamy Syndrome	Osteopenia, Clinodactyly of the 5th finger, Short 2nd finger, Recurrent fractures, Long fingers, ...	OMIM:611174
Autosomal Recessive Faciodigitogenital Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Micrognathia, Brachydactyly, Joint...	ORPHA:1974
Ablepharon-Macrostomia Syndrome	Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Cutaneous finger syndactyly, Toe...	OMIM:200110
Smith-Magenis Syndrome	Clinodactyly of the 5th finger, Joint stiffness, Hand polydactyly, Micrognathia, Brachydactyly, T...	ORPHA:819
Floating-Harbor Syndrome	Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, 11 pairs of ...	OMIM:136140
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Scoliosis, Hemivertebrae, Congenital hip dislocation, Syndactyly, Patent ductus a...	OMIM:104350
Cinca Syndrome	Reduced bone mineral density, Brachydactyly	ORPHA:1451
Orthostatic Hypotension 1	Joint hypermobility, Brachydactyly	OMIM:223360
Craniofrontonasal Syndrome	Clinodactyly of the 5th finger, Coronal craniosynostosis, Broad hallux, Congenital pseudoarthrosi...	OMIM:304110
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ...	ORPHA:2754
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, Patent ductus arterio...	OMIM:618142
Mosaic Trisomy 1	Rocker bottom foot, Deviation of the 5th toe, Broad 2nd toe, Broad toe, Elbow flexion contracture...	ORPHA:1692
Rhombencephalosynapsis	Polydactyly, Finger syndactyly, Short phalanx of finger, Microretrognathia, Complete duplication ...	ORPHA:59315
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
Oculocerebrocutaneous Syndrome	Talipes, Finger syndactyly, Missing ribs, Congenital hip dislocation, Aplasia/Hypoplasia of the d...	ORPHA:1647
19P13.12 Microdeletion Syndrome	Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Sandal gap, Finger synd...	ORPHA:254346
Mosaic Trisomy 16	Single transverse palmar crease, Short thumb, Short forearm, Syndactyly, Short femoral neck, Clin...	ORPHA:1708
Macrodactyly	Macrodactyly	OMIM:155500
Joubert Syndrome 16	Polydactyly	OMIM:614465
Alg8-Cdg	Talipes equinovarus, Brachydactyly, Camptodactyly	ORPHA:79325
Lethal Congenital Contracture Syndrome 10	Stiff neck, Short long bone, Femoral bowing, Micrognathia, Adducted thumb, Overlapping fingers, T...	OMIM:617022
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Absent thumb, Short thumb	OMIM:610832
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Generalized osteoporosis, Micrognathia, Brachydactyly, Short distal phalanx of finger...	ORPHA:2959
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Broad thumb, Duplication of th...	OMIM:601707
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Split hand, Split foot, Foot polydactyly, Camp...	ORPHA:2008
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Narrow iliac wing, Hypoplastic frontal sinuses, Short palm, Micro...	OMIM:300712
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci...	OMIM:114290
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Houge-Janssens Syndrome 2	Scoliosis, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia	OMIM:616362
Myhre Syndrome	Abnormal metaphysis morphology, Craniofacial hyperostosis, Large iliac wing, Joint stiffness, Sho...	ORPHA:2588
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu...	ORPHA:233
Meckel Syndrome, Type 3	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:607361
Methylcobalamin Deficiency Type Cble	Clinodactyly, Syndactyly, Osteoporosis	ORPHA:2169
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
21Q22.11Q22.12 Microdeletion Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Camptodactyly, Short proximal phalanx of the ...	ORPHA:261323
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Talipes equinovarus, Brachydactyly, Clinodactyly, Camptodactyly	ORPHA:397709
Bohring-Opitz Syndrome	Deep plantar creases, Deep palmar crease, Dislocated radial head, Mesomelic/rhizomelic limb short...	OMIM:605039
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Tracheobronchomalacia, Brachydactyly	OMIM:610253
Trisomy 20P	Reduced bone mineral density, Abnormal foot morphology, Abnormal hip bone morphology, Talipes, Fi...	ORPHA:261318
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Fused cervical vertebrae, Dislocated radial head, Dysplastic patella, Camptod...	OMIM:265000
Aminopterin/Methotrexate Embryofetopathy	Talipes, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Flexion contracture, Palmoplant...	ORPHA:2908
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Craniosynostosis, Brachydactyly	ORPHA:457193
Stolerman Neurodevelopmental Syndrome	Broad palm, Joint hypermobility, Clinodactyly of the 5th finger, Syndactyly	OMIM:618505
Coffin-Lowry Syndrome	Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Single transverse palm...	OMIM:303600
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh...	ORPHA:2886
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad...	OMIM:227330
Macs Syndrome	Single transverse palmar crease, Osteoporosis, Micrognathia, Brachydactyly, Joint hypermobility, ...	OMIM:613075
Alagille Syndrome 1	Short distal phalanx of finger, Hypoplasia of the ulna	OMIM:118450
Genitopalatocardiac Syndrome	Micrognathia, Postaxial hand polydactyly, Brachydactyly	ORPHA:2075
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Flexion contracture, Exaggerated startle response	OMIM:618201
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Short long bone, Femoral bowing, Metaphyseal spurs, Fra...	OMIM:618188
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Drumstick terminal phalanges, Brachydactyly	OMIM:612938
Joubert Syndrome 27	Polydactyly	OMIM:617120
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, 4-5 finger syndactyly, Micrognathia, Broad long bones, Fifth finger...	OMIM:257850
Marbach-Schaaf Neurodevelopmental Syndrome	Tapered finger, Brachydactyly	OMIM:619680
Ritscher-Schinzel Syndrome 1	Micrognathia, Syndactyly, Missing ribs	OMIM:220210
Cornelia De Lange Syndrome 1	Limited elbow extension, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proximal place...	OMIM:122470
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger syndactyl...	ORPHA:158687
Dubowitz Syndrome	Clinodactyly of the 5th finger, Sandal gap, Aplasia/Hypoplasia of the thumb, Craniosynostosis, Br...	ORPHA:235
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Scoliosis, Long fingers, Patent ductus arteriosus, Overlapping toe, Long toe, Cutaneous syndactyl...	OMIM:618316
3C Syndrome	Abnormal hip bone morphology, Finger syndactyly, Missing ribs, Hand polydactyly, Micrognathia, Br...	ORPHA:7
Frontorhiny	Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Hypoplastic frontal sinuses	ORPHA:391474
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly	OMIM:616954
Orofaciodigital Syndrome Xix	Postaxial hand polydactyly, Type A brachydactyly, Broad hallux, Toe syndactyly, Postaxial foot po...	OMIM:620107
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Syndactyly	ORPHA:1439
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy...	OMIM:616300
Bardet-Biedl Syndrome 1	Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ...	OMIM:209900
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Postaxial foot polydactyly	ORPHA:139471
Myhre Syndrome	Short finger, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndactyly, Short long ...	OMIM:139210
Kabuki Syndrome 2	Prominent fingertip pads, Micrognathia, Brachydactyly, Joint hypermobility, Short 5th finger, Hip...	OMIM:300867
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Tracheomalacia, Camptodactyly, Micrognathia, Syndactyly, Talipes eq...	ORPHA:314679
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Clinodactyly of the 5th finger, Reduced bone mineral density, Finger syndactyl...	ORPHA:2750
Robinow Syndrome, Autosomal Dominant 3	Camptodactyly, Broad thumb, Short phalanx of finger, Micrognathia, Mesomelia, Syndactyly, Brachyd...	OMIM:616894
Multiple Pterygium-Malignant Hyperthermia Syndrome	Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod...	ORPHA:2215
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Short long bone, Bowing of the long bones, Camptodactyly, Bilatera...	OMIM:249420
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio...	OMIM:302960
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Split hand, Joint stiffness, Micrognathia, Toe syndactyly	ORPHA:1300
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Metatarsus ...	OMIM:272950
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Cohen Syndrome	Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Cubitus va...	ORPHA:193
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly	ORPHA:66629
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Micrognathia, Brachydactyly, Ulnar deviation of finger, T...	ORPHA:1358
Raine Syndrome	Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli...	OMIM:259775
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Radio-Tartaglia Syndrome	Pes cavus, Micrognathia, Brachydactyly, Pes planus, Tapered finger	OMIM:619312
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Floating-Harbor Syndrome	11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Short thumb, Brachyd...	ORPHA:2044
Charge Syndrome	Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd...	OMIM:214800
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1507
Hajdu-Cheney Syndrome	Osteopenia, Partial absence of toe, Absent frontal sinuses, Bowing of the long bones, Decreased s...	ORPHA:955
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Decrease...	ORPHA:3472
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Toe syndactyly, Clinodactyly of the 5th finger	ORPHA:140952
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Hand polydactyly, Short humerus, Proximal placement of thumb	OMIM:314390
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Camptodactyly, Brachydactyly, Finger clinodactyly, Tapered finger	OMIM:601353
15q26 overgrowth syndrome	Abnormal finger morphology, Camptodactyly of finger, Arachnodactyly, Micrognathia, Abnormal toe m...	DECIPHER:81
19Q13.11 Microdeletion Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Toe clinodactyly, ...	ORPHA:217346
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalang...	OMIM:150230
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Thor...	OMIM:148050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Craniosynostosis, Aplasia/Hypoplasia involving t...	ORPHA:1521
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Finger syndactyly, Abnormality of the upper limb, Abnormality of th...	ORPHA:1556
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Joint hypermobility, Brachyd...	OMIM:618050
Robinow Syndrome, Autosomal Dominant 1	Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad...	OMIM:180700
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Flared metaphysis, Hyperextensibility of the finger joints, Proximal ...	OMIM:151050
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Prader-Willi Syndrome	Osteopenia, Acromicria, Radial deviation of finger, Genu valgum, Short foot, Osteoporosis, Narrow...	OMIM:176270
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Bullet-shaped phalanges of the hand, Pa...	OMIM:252500
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Camptodactyly, Micrognathia, Flexion contracture, 3-4 finger cutane...	OMIM:620029
Triploidy	Finger syndactyly, Micrognathia, Decreased skull ossification	ORPHA:3376
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Constricting Bands, Congenital	Scoliosis, Hand polydactyly, Syndactyly, Talipes equinovarus	OMIM:217100
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia,...	ORPHA:1587
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Syndactyly, Short thumb, Rad...	OMIM:192350
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Meester-Loeys Syndrome	Broad distal phalanx of finger, Camptodactyly, Arachnodactyly, Joint contracture, Brachydactyly, ...	OMIM:300989
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Scoliosis, Short neck, Toe syndactyly	OMIM:616038
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madel...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madel...	ORPHA:99228
Monosomy X	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madel...	ORPHA:99226
Turner Syndrome	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madel...	ORPHA:881
Chromosome 13Q33-Q34 Deletion Syndrome	Single transverse palmar crease, Small thenar eminence, Camptodactyly, Micrognathia, Distally pla...	OMIM:619148
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Macular edema, Hypertension, Cardiomyopathy, Retinal cotton wool spo...	ORPHA:247691
Opitz-Kaveggia Syndrome	Radial deviation of finger, Single transverse palmar crease, Prominent fingertip pads, Split hand...	OMIM:305450
Adnp Syndrome	Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn...	ORPHA:404448
Congenital Disorder Of Glycosylation, Type Iiaa	Short long bone, Knee flexion contracture, Bilateral talipes equinovarus	OMIM:620454
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing, Flattened femor...	ORPHA:79255
Microphthalmia, Lenz Type	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Hyper...	ORPHA:568
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Short middle phalanx of the ...	OMIM:190685
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short clavicles, Short long bone, Postaxial hand polydactyly, Short ribs, Postaxial polydactyly, ...	OMIM:617088
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Micrognathia, Absent ...	ORPHA:284160
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Thoracic scoliosis	OMIM:603387
White-Sutton Syndrome	Broad thumb, Micrognathia, Broad foot, Brachydactyly, Joint hypermobility, Hypoplastic cervical v...	OMIM:616364
Pallister-Hall Syndrome	Short 4th metacarpal, Bilateral postaxial polydactyly, Talipes, Polydactyly affecting the 4th fin...	ORPHA:672
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Meckel Syndrome, Type 2	Polydactyly, Postaxial hand polydactyly, Bowing of the long bones	OMIM:603194
Focal Dermal Hypoplasia	Finger syndactyly, Short clavicles, Short ribs, Split hand, Lower limb asymmetry, Hypoplastic pel...	ORPHA:2092
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Tracheomalacia, Micrognathia, Syndactyly, Brachydactyly, Hip dysplasia, Joint hypermobility	OMIM:620654
Basel-Vanagaite-Smirin-Yosef Syndrome	Overlapping fingers, Pes cavus, Finger syndactyly, Broad distal phalanx of the toes, 2-3 toe synd...	ORPHA:464738
Fg Syndrome Type 1	Abnormal thumb morphology, Clinodactyly of the 2nd finger, Finger syndactyly, Broad toe, Limited ...	ORPHA:93932
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly of the 5th finger, Lower limb asymmetry, Micrognathia, Syndactyly, Brachydactyly, Na...	ORPHA:96182
Diamond-Blackfan Anemia 1	Hypoplasia of the radius, Triphalangeal thumb, Hypoplastic coccygeal vertebrae, 11 pairs of ribs,...	OMIM:105650
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Prader-Willi Syndrome Due To Translocation	Clinodactyly of the 5th finger, Short foot, Bilateral talipes equinovarus, Micrognathia, Brachyda...	ORPHA:177907
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cutaneous finger syndactyly, 2-4 finger syndactyly, Micrognathia, Cutaneous syndactyly of toes, P...	OMIM:225060
Vacterl With Hydrocephalus	Hypoplasia of the radius, Micrognathia, Absence of the sacrum, Hip dislocation	ORPHA:3412
Chops Syndrome	Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia	OMIM:616368
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Broad thumb, Cervical C5/C6 verte...	ORPHA:87
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h...	ORPHA:90652
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Micrognathia, Broad hallux, Brac...	OMIM:617062
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero...	OMIM:619727
Acrocallosal Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tapered finger, Du...	OMIM:200990
Hypomagnesemia 3, Renal	Rickets, Genu valgum, Bowing of the legs, Short metacarpal	OMIM:248250
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Joint stiffness, Flexion contracture, Brachydactyly, Talipes equi...	ORPHA:847
Maternal Phenylketonuria	Micrognathia, Bifid distal phalanx of the thumb, Clinodactyly, Brachydactyly	ORPHA:2209
Toriello-Lacassie-Droste Syndrome	Short palm, Brachydactyly	ORPHA:3339
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypertension, Keratitis, Opacification of...	OMIM:308205
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Carpenter Syndrome 2	Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker...	OMIM:614976
Autosomal Dominant Robinow Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Elbow dislocation, Coxa vara, Micromelia, Shor...	ORPHA:3107
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br...	ORPHA:364577
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Finger syndactyly, Micrognathia, Palmoplantar hyperke...	ORPHA:3253
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Single transverse palmar crease, Elbow flexion contracture, Micrognathia...	OMIM:619777
Gorlin Syndrome	Palmar pits, Arachnodactyly, Brachydactyly, Plantar pits, Vertebral fusion	ORPHA:377
Robinow Syndrome	Mesomelic arm shortening, Missing ribs, Micrognathia, Bifid distal phalanx of the thumb, Mesomeli...	ORPHA:97360
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Scoliosis, Kyphosis, Genu varum	ORPHA:1969
Fraser Syndrome 3	Micrognathia, Cutaneous syndactyly, Short toe	OMIM:617667
Hyperekplexia 1	Exaggerated startle response, Inguinal hernia, Umbilical hernia	OMIM:149400
Vacterl/Vater Association	Abnormal intervertebral disk morphology, Finger syndactyly, Vertebral segmentation defect, Aplasi...	ORPHA:887
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Craniosynostosis, Tapered finger, Short foot, Camptodactyly, Micrognathia, Flexion contracture, B...	OMIM:309590
Meier-Gorlin Syndrome 7	Joint hypermobility, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe syndactyl...	OMIM:617063
Leukodystrophy, Hypomyelinating, 13	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:616881
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Single transverse palmar crease, Prominent fingertip pads, Short palm, Brachydactyly, Pes planus,...	ORPHA:466950
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly, Pes planus	OMIM:615877
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Mgat2-Cdg	Osteopenia, Brachydactyly	ORPHA:79329
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Micrognathi...	ORPHA:444077
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Short 2nd toe, Syndactyly, Brachydactyly, Microretrognat...	OMIM:311200
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Ayme-Gripp Syndrome	Brachydactyly, Tapered finger, Camptodactyly, Radioulnar synostosis	OMIM:601088
Smith-Lemli-Opitz Syndrome	Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t...	ORPHA:818
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Fused cervical vertebrae, Short foot, Fusion of middle ear ossicles, Pseudoepi...	OMIM:157800
Cranioectodermal Dysplasia 2	Polydactyly, Rhizomelia, Short ribs, Postaxial hand polydactyly, Micrognathia, Mesomelia, Syndact...	OMIM:613610
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pes cavus, Proportionate shortening of all digits, Flexion contracture of toe, Short foot, Deep l...	ORPHA:280633
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Aplasia/Hypoplasia of...	ORPHA:306542
Mckusick-Kaufman Syndrome	Postaxial hand polydactyly, Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, P...	OMIM:236700
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Short thumb, Clinodactyly of the 5th finger, Tapered finger, Brachydactyly	ORPHA:477993
Monosomy 22	Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Con...	ORPHA:96123
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Joint hypermobility, Craniosynostosis, Long hallux, Joint...	OMIM:618164
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Exaggerated startle response	OMIM:609541
Mend Syndrome	Polydactyly, Sacral dimple, 2-3 toe syndactyly, Kyphosis, Long fingers, Broad hallux, Overlapping...	OMIM:300960
Jacobsen Syndrome	Clinodactyly of the 5th finger, Missing ribs, Micrognathia, Flexion contracture, Brachydactyly	OMIM:147791
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Long foot, Clinodactyly of t...	OMIM:280000
Down Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Sandal gap, Brachydac...	ORPHA:870
Loeys-Dietz Syndrome 2	Absent distal phalanges, Camptodactyly, Osteoporosis, Postaxial polydactyly, Arachnodactyly, Prot...	OMIM:610168
Orofaciodigital Syndrome V	Sandal gap, Scoliosis, Postaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly	OMIM:174300
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of...	ORPHA:2907
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Broad hallux phalanx, Finger syndactyly, Preaxial hand polydactyly	ORPHA:2211
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Genitopatellar Syndrome	Knee flexion contracture, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypoplasti...	OMIM:606170
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Short palm, Brachydactyly, Pes planus, Pes valgus	ORPHA:466943
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Hammertoe, Sandal...	OMIM:616268
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger...	OMIM:607932
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal foot morphology, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finge...	ORPHA:2990
Noonan Syndrome	Osteopenia, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Radioulnar synostosis, J...	ORPHA:648
Pgm3-Cdg	Osteomyelitis, Brachydactyly, Decreased/absent ankle reflexes	ORPHA:443811
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1519
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:617864
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Incontinentia Pigmenti	Finger syndactyly, Abnormal hand morphology, Absent hand, Deviation of finger, Camptodactyly of f...	ORPHA:464
Rapp-Hodgkin Syndrome	Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly	OMIM:129400
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Limb-Mammary Syndrome	Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy...	ORPHA:69085
3Mc Syndrome 3	Preaxial polydactyly, Sacral dimple, Clinodactyly, Radioulnar synostosis	OMIM:248340
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Clinodactyly of the 5th finger, Talipes, Joint hypermobility, Single transverse palmar crease, Pr...	OMIM:612474
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Scoliosis, Kyphosis, Arachnodactyly, ...	ORPHA:464306
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Single transverse palmar ...	OMIM:619297
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Limb joint contracture, Exaggerated startle response	OMIM:620327
Cog1-Cdg	Osteopenia, Rhizomelia, Talipes equinovarus, Short long bone, Flat acetabular roof, Micrognathia,...	ORPHA:263508
Simpson-Golabi-Behmel Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Postaxial hand polydactyly, ...	ORPHA:373
Choanal Atresia	Polydactyly	ORPHA:137914
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Cuboid-shaped vertebral bodies, Hypoplastic pelvis	OMIM:612731
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Ar...	OMIM:617301
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Eec Syndrome	Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr...	ORPHA:1896
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Sacral dimple, Clinodactyly of the 5th finger, Deep palmar crease, Single transverse...	OMIM:247200
Toriello-Carey Syndrome	Micrognathia, Clinodactyly, Brachydactyly	ORPHA:3338
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Microgna...	OMIM:620025
Witteveen-Kolk Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Proximal placement of thumb, Short fo...	OMIM:613406
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Bloom Syndrome	Hand polydactyly, Clinodactyly of the 5th finger, Syndactyly	OMIM:210900
Hartsfield Syndrome	Craniosynostosis, Ectrodactyly, Syndactyly	OMIM:615465
Bardet-Biedl Syndrome 20	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly	OMIM:619471
Barber-Say Syndrome	Talipes equinovarus, Micrognathia, Clinodactyly of the 5th finger, Brachydactyly	OMIM:209885
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Short long bone	OMIM:301110
Jacobsen Syndrome	Talipes, Finger syndactyly, Missing ribs, Toe clinodactyly, Hand polydactyly, Toe syndactyly, Lon...	ORPHA:2308
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Elsahy-Waters Syndrome	Cutaneous finger syndactyly, Cervical C2/C3 vertebral fusion, Shortening of all phalanges of fing...	OMIM:211380
Meckel Syndrome, Type 1	Radial deviation of finger, Talipes, Postaxial hand polydactyly, Bowing of the long bones, Foot p...	OMIM:249000
Orofaciodigital Syndrome Type 4	Finger syndactyly, Split hand, Postaxial hand polydactyly, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp...	OMIM:256520
Monosomy 9Q22.3	Polydactyly, Palmar pits, Abnormality of the vertebral column, Kyphosis, Short neck	ORPHA:77301
Legius Syndrome	Polydactyly, Scoliosis, Clinodactyly of the 5th finger	ORPHA:137605
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Adams-Oliver Syndrome 1	Talipes equinovarus, Toe syndactyly, Brachydactyly	OMIM:100300
Holoprosencephaly	Joint hypermobility, Hand polydactyly, Talipes, Brachydactyly	ORPHA:2162
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Micromelia, Postaxial polydactyly, Short neck, Aplastic clavicle	OMIM:616546
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, 11 pairs of ribs, Lower limb asymmetry, Foot polydactyly, Camptod...	ORPHA:1606
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Dubowitz Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Micrognathia, Syndactyly, Pes pl...	OMIM:223370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Micrognathia, Palmoplantar keratoderma, Clinodactyly of the 5th finger	ORPHA:1071
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Contractures of the large joints, Dystonia, Exaggerated startle response	ORPHA:521426
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Cowden Syndrome	Palmoplantar keratoderma, Bone cyst, Brachydactyly	ORPHA:201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Scoliosis, Postaxial polydactyly, Broad hallux, Hip dysplasia	ORPHA:457284
Degcags Syndrome	Polydactyly, Osteopenia, Genu valgum, Craniosynostosis, Tracheomalacia, Micrognathia, Short thumb...	OMIM:619488
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Genu valgum, Radial deviation of finger, Slender finger, Clinodactyly, Micrognathia, Brachydactyl...	OMIM:309580
Congenital Sialidosis Type 2	Polydactyly	ORPHA:93400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Patent ductus arteriosus, Scoliosis, Syndactyly, Hip dysplasia, L...	OMIM:616975
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Scoliosis, Prominent finger...	OMIM:615873
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Talipes, Abnormality of b...	ORPHA:138
Noonan Syndrome 1	Radial deviation of finger, Cubitus valgus, Synovitis, Micrognathia, Brachydactyly, Clinodactyly	OMIM:163950
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Contractures of the large joints, Exaggerated startle response	OMIM:617527
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Scalp-Ear-Nipple Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, Broad thumb, 3-4 finger cu...	OMIM:181270
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Joint hypermobility, Talipes...	ORPHA:110
Peters Plus Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Micromelia, Micrognathia, Short toe, Brachydactyly, T...	ORPHA:709
Chromosome 1P36 Deletion Syndrome, Distal	Pes cavus, Clinodactyly of the 5th finger, 11 pairs of ribs, Camptodactyly, Metatarsus adductus, ...	OMIM:607872
Doors Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Clinodactyly of the 5t...	ORPHA:79500
Tay-Sachs Disease	Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response	ORPHA:845
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology, Craniosynostosis	ORPHA:2136
Fraser Syndrome 2	Cutaneous syndactyly	OMIM:617666
Genitourinary And/Or Brain Malformation Syndrome	Joint stiffness, Micrognathia, Syndactyly	OMIM:618820
Asparagine Synthetase Deficiency	Failure to thrive, Tremor, Exaggerated startle response	OMIM:615574
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx of finger, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx of finger, A...	ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Exaggerated startle response	OMIM:253800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Sacral dimple, Scoliosis, Kyphosis, Abn...	ORPHA:268261
Coffin-Siris Syndrome 12	Hip subluxation, Slender finger, Broad thumb, Micrognathia, Short thumb, Radioulnar synostosis, J...	OMIM:619325
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Proteus Syndrome	Macrodactyly, Cranial hyperostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abn...	ORPHA:744
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Fontaine Progeroid Syndrome	Deep palmar crease, Absent distal phalanges, Coronal craniosynostosis, Micrognathia, Syndactyly, ...	OMIM:612289
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Alstrom Syndrome	Polydactyly, Scoliosis, Kyphosis	OMIM:203800
Mullegama-Klein-Martinez Syndrome	Polydactyly, Scoliosis, Clinodactyly of the 5th finger	OMIM:301022
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Short femur, Short humerus, Patent ductus arteriosus	ORPHA:17
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly	ORPHA:293987
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Toe clinodactyly, Long fingers, Joint hypermobility, Cutaneous syndactyly	OMIM:620330
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Decreased cervical spine mobility, Abnormal digit morphology, Osteoporosis of vertebrae	ORPHA:95494
Rabson-Mendenhall Syndrome	Polydactyly	ORPHA:769
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polydactyly, Osteopenia, Knee dislocation, Broad thumb, Postaxial polydactyly, Broad first metata...	OMIM:619534
Microphthalmia, Syndromic 1	Radial deviation of finger, Short clavicles, Prominent fingertip pads, Camptodactyly, Abnormal pa...	OMIM:309800
Fraser Syndrome	Finger syndactyly, Wide pubic symphysis, Limb undergrowth, Toe syndactyly, Cutaneous syndactyly	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pes planus, Genu valgum, Right unicoronal synostosis, Hallux valgus, Calcaneovalgus deformity, Ca...	ORPHA:261537
Okamoto Syndrome	Polydactyly, Scoliosis, Hip dysplasia	ORPHA:2729
Mowat-Wilson Syndrome	Pes planus, Genu valgum, Hallux valgus, Recurrent fractures, Calcaneovalgus deformity, Camptodact...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pes planus, Genu valgum, Right unicoronal synostosis, Hallux valgus, Calcaneovalgus deformity, Ca...	ORPHA:261552
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Exaggerated startle response, Osteoporosis, Uterine prolapse, Dystonia	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sfrp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sfrp2.

No publications found that use IMPC mice or data for Sfrp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sfrp2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sfrp2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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