| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split foot, Split hand |
OMIM:225290 |
| Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
| Dystelephalangy |
|
Curved distal phalanx of the 5th finger |
OMIM:128000 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
| Split-Hand And Split-Foot With Hypodontia |
|
Split foot, Split hand |
OMIM:183500 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
| Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Madelung deformity, Radial bowing, Limited pronation/supination of forearm |
DECIPHER:58 |
| Genochondromatosis |
|
Metaphyseal chondromatosis of humerus, Metaphyseal chondromatosis of femur |
OMIM:137360 |
| Radial Hemimelia |
|
Deviation of the hand or of fingers of the hand, Aplasia of the 1st metacarpal, Abnormality of th... |
ORPHA:93321 |
| Postaxial Tetramelic Oligodactyly |
|
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly |
ORPHA:2730 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... |
OMIM:309630 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
| Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
| Brachydactyly, Type A1, B |
|
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:607004 |
| Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
| Brachydactyly, Type A1, D |
|
Short distal phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Clinodactyly of t... |
OMIM:616849 |
| Tetramelic Monodactyly |
|
Split hand, Split foot, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
| Limb Defects, Distal Transverse, With Mental Retardation And Spasticity |
|
Split hand |
OMIM:246555 |
| Broad Terminal Phalanges, Familial |
|
Broad distal phalanx of finger, Broad distal phalanx of the toes |
OMIM:602071 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
| Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short metacarpal, Mesomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, B... |
OMIM:611263 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short 1st metacarpal, Broad middle phalanx of finger, Delayed ossification of carpal bones, Clino... |
OMIM:182255 |
| Thumb Deformity |
|
Aplasia/Hypoplasia of the thumb |
OMIM:188100 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... |
OMIM:600593 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Aplasia of the middle phalanges of the toes, Short middle... |
OMIM:112800 |
| Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin... |
ORPHA:1453 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla... |
OMIM:606895 |
| Thiemann Disease, Familial Form |
|
Avascular necrosis, Limitation of joint mobility, Brachydactyly, Abnormal metaphysis morphology, ... |
ORPHA:3314 |
| Talo-Patello-Scaphoid Osteolysis |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
ORPHA:50809 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... |
OMIM:609655 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short metacarpal, Short hallux, Short distal phalanx of finger, Hallux varus, S... |
OMIM:112450 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis, Mesomelia |
OMIM:156232 |
| Curved Nail Of Fourth Toe |
|
Short distal phalanx of finger |
OMIM:219070 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent forearm, Aplasia of metacarpal bones, S... |
OMIM:200500 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
| Brachydactyly Type E |
|
Short metacarpal, Upper limb asymmetry, Aplasia/Hypoplasia of the distal phalanx of the hallux, S... |
ORPHA:93387 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Ulnar Hypoplasia With Mental Retardation |
|
Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus |
OMIM:276821 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
| Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Symphalangism, Proximal, 1B |
|
Short 2nd finger, Abnormal finger flexion crease, Clinodactyly of the 5th finger, Proximal/middle... |
OMIM:615298 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Brachyda... |
OMIM:226900 |
| Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... |
ORPHA:2632 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology, Joint stiffness,... |
ORPHA:1078 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Synophrys, Micrognathia, Broad thu... |
ORPHA:1278 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe... |
OMIM:132400 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Absent distal phalanges, Ty... |
OMIM:120400 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Rhizomelia, Platyspondyly, Brachydactyly, Short metatarsal, Deformed... |
OMIM:601438 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad femoral neck, Genu valgum, Upper limb undergrowth, Hypoplastic sacrum, Coxa vara, Capitate-... |
OMIM:271650 |
| Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
| Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger |
OMIM:119650 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
| Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... |
OMIM:211369 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Hip osteoarthritis |
OMIM:170700 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Absent proximal radial epiphyses, Forearm undergrowth, Elbow flexion cont... |
OMIM:249600 |
| Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, Short distal phalanx of finger, ... |
OMIM:614814 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Broad foot, Abnormal trabecular bone morphology, Narro... |
ORPHA:79106 |
| Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Rhizomeli... |
OMIM:228900 |
| Multiple Synostoses Syndrome |
|
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Abnorm... |
ORPHA:1856 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the legs, Bowing of th... |
OMIM:249710 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split foot, Split hand |
OMIM:183700 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Joint contracture of the hand, 2-3 finger syndactyly, 2-4 fing... |
OMIM:225280 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti... |
OMIM:151200 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Sagittal craniosynostosis, Distal symphalangism of hands, 3-4 finger syndacty... |
OMIM:185900 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossification, Short distal ... |
ORPHA:79445 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Decreased bod... |
OMIM:615222 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split foot, Tapered finger, Split hand |
OMIM:220600 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Knee pain, Short metacarpal, Abnormal hip joint morphology, Irregular epiphyses, Epiphyseal dyspl... |
OMIM:600969 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... |
OMIM:186400 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, ... |
ORPHA:2249 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Micromelia, Cryptorchidism, Li... |
OMIM:180870 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Decreased testicular size, Infertility, Low posterior hairline, Cubitus valgus,... |
ORPHA:261524 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
| Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short thumb, Abnormal metacarpal morphology, Duplication of the distal phalanx of the 5th finger,... |
ORPHA:973 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Premature osteoarthritis, Abnorma... |
ORPHA:93307 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity, Hypogonadism |
OMIM:615988 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly |
ORPHA:2935 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... |
OMIM:618167 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Abnormality of th... |
ORPHA:2878 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus |
OMIM:613681 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Syndactyly, Brachydactyly, Micropenis |
OMIM:615983 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay |
|
Unusual dermatoglyphics, Metatarsus adductus |
OMIM:112370 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Dislocated radial hea... |
OMIM:603546 |
| Cooks Syndrome |
|
Triphalangeal thumb, Dystrophic toenail, Broad thumb, Split hand, Brachydactyly, Dystrophic finge... |
ORPHA:1487 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Blount Disease, Adolescent |
|
Bowing of the legs, Genu varum, Osteochondritis dissecans |
OMIM:259200 |
| Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, 11 pairs of ribs, Decreased body weight, Short metacarpal, Broad phalanx... |
OMIM:618724 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Ulnar bowing, Aplasia/Hypoplasia of the radius, Micromelia, Madelung deformity |
ORPHA:1765 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Alopeci... |
OMIM:600705 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Small for gestational age, Upper limb phocomelia, Syndactyly, Abnormality of the ver... |
ORPHA:294975 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasi... |
OMIM:227270 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
| Brachydactyly Type A4 |
|
Symphalangism affecting the phalanges of the hand, Short middle phalanx of the 5th finger, Short ... |
ORPHA:93394 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand, Cleft pa... |
DECIPHER:46 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... |
OMIM:617719 |
| Tetrasomy X |
|
Premature ovarian insufficiency, Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th fi... |
ORPHA:9 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Delayed skeletal maturation... |
OMIM:617974 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Brachydactyly, Short metatarsal, Obesity, Osteoporosis |
OMIM:612463 |
| Jackson-Weiss Syndrome |
|
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... |
OMIM:123150 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
| Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... |
ORPHA:3266 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Fanconi Anemia, Complementation Group U |
|
Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, Absent scaphoid, Absent ra... |
OMIM:617247 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Intervertebral space narrowing, Patellar dislocation, Capitate-hamate fus... |
OMIM:614078 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Hypo... |
OMIM:614613 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Elbow flexion contracture, Flared iliac wing, Flat acetabular roof, Halberd-shaped pel... |
OMIM:184252 |
| Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed ossification of carpal bones... |
OMIM:105835 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Synophrys, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, ... |
OMIM:605282 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Split hand, Dist... |
OMIM:610099 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Joint stiffness, Delayed skeleta... |
ORPHA:969 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Distal ulnar hypoplasia, Micrognathia |
OMIM:277150 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Uterus didelphys, Abnormality of the wrist, Hypoplasia of penis, Split ... |
ORPHA:2491 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Split foot, Hand monodactyly |
OMIM:183800 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Finger j... |
ORPHA:93308 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short 5th metacarpal, Short finger, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Flat acetabular roof, Micrognathi... |
OMIM:108721 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Acromegaloid Facial Appearance Syndrome |
|
Tapered finger, Short 5th metacarpal, Micrognathia, Large for gestational age, Joint hypermobilit... |
OMIM:102150 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Joint hyperflexibility, Scoli... |
ORPHA:40 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
| Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Shortening of all middle phalanges of the fingers, Short hallu... |
OMIM:140000 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Hypogonadism, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cryptorchidism |
ORPHA:2489 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal |
ORPHA:228190 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
| Exostoses, Multiple, Type Ii |
|
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... |
OMIM:133700 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short humerus, Short palm, Short toe, Ac... |
OMIM:250215 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... |
ORPHA:971 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis, Wormian bones |
ORPHA:2787 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
| Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... |
OMIM:186570 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Short femoral neck, Kyphosis, Small for gestational age, Delayed ossificat... |
OMIM:618392 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Azoospermia, Male hypogonadism |
OMIM:241000 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Micrognathia, Clinodactyly of... |
OMIM:311895 |
| Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
| Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Avascular necrosis, Abnormality of the fifth metatarsal bone, Flattened metatarsal h... |
ORPHA:564003 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Foot dorsiflexor weakness, Split hand, Hammertoe, Distal amyotrophy, Limb muscle weakness |
OMIM:118300 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Winchester Syndrome |
|
Arthropathy, Generalized osteoporosis, Hirsutism, Broad metacarpals, Carpal osteolysis, Osteolysi... |
OMIM:277950 |
| Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormality of the foot musculature, Hand muscle atrophy, Foot dorsiflexor weakness, Split hand, ... |
ORPHA:100998 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f... |
ORPHA:1540 |
| Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle... |
OMIM:185800 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly |
OMIM:113300 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd fin... |
OMIM:156510 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Abnormal epiphysis morphology, Anal atresia, Lower limb undergrowth |
ORPHA:2310 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
| Metatarsus Varus, Type I |
|
Metatarsus adductus |
OMIM:156520 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Hypochondroplasia |
|
Short toe, Genu varum, Hyperlordosis, Abnormality of the elbow, Spinal canal stenosis, Micromelia... |
ORPHA:429 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... |
OMIM:185700 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Severe pl... |
OMIM:608940 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Protrusio acetabuli, Hip osteoarthritis, Brachytelomesophalangy, Abnormality of the wr... |
ORPHA:2619 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis, Finger syndactyly |
ORPHA:1527 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... |
OMIM:618395 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Juberg-Hayward Syndrome |
|
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Abno... |
OMIM:216100 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi... |
OMIM:147750 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Acrodysostosis |
|
Irregular menstruation, Short toe, Abnormality of female external genitalia, Short metacarpal, Hy... |
ORPHA:950 |
| Czech Dysplasia |
|
Short toe, Intervertebral space narrowing, Flexion contracture, Irregular vertebral endplates, Sh... |
OMIM:609162 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly... |
ORPHA:1795 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Cryptorchidism |
ORPHA:3434 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Mesomelia, Micromelia, Platyspondyly... |
OMIM:184260 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Short ribs, Radial bowing, Micrognathia, Missing ribs, Ulnar bowing, Micromel... |
OMIM:617866 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency, Hypogonadism |
OMIM:615987 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
| Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Finger syndactyly, Oligodactyly |
ORPHA:2440 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short first metatarsal, Short 1st metacarpal, Short distal phalanx ... |
OMIM:601957 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Flexion contrac... |
ORPHA:2850 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Short first metatarsal, Short 1st metacarpal, Bicornuate uterus, Synostosi... |
ORPHA:2438 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
| Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal ... |
OMIM:617927 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Rhizomelia... |
OMIM:619636 |
| Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... |
OMIM:223800 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Split hand,... |
ORPHA:1406 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Synophrys, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, External genital hypoplasia, Renal cyst, Syndactyly, Cryptorchidism, B... |
OMIM:615982 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... |
ORPHA:166011 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Genu valgum, Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Deviation of ... |
ORPHA:2831 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Arthritis, Scoliosis, Brachydactyly |
ORPHA:1937 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Low urinary cyclic AMP response to PTH administration, Short metacarpal, Hypogonadism,... |
OMIM:103580 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Brachyda... |
ORPHA:1436 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Anal atresia |
OMIM:246000 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Decre... |
OMIM:157900 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectovaginal fistula, Anal atresia, Oligodactyly, Ectrodactyly, Perinea... |
ORPHA:3016 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Short thumb, Distally placed thumb, Small thenar eminence |
OMIM:179270 |
| Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Finger syndactyly, Absent eyebrow, Ectrodactyly |
ORPHA:1897 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
| Gordon Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger, Limitation of joint m... |
ORPHA:376 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| W Syndrome |
|
Radial bowing, Clinodactyly, Camptodactyly, Elbow dislocation, Hypoplasia of the ulna, Metatarsus... |
ORPHA:2804 |
| Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Micromelia, Abnor... |
ORPHA:93430 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Pterygium, Sho... |
OMIM:211350 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Brachydactyly |
OMIM:615995 |
| Sillence Syndrome |
|
Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... |
ORPHA:3168 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Thoracic kyphosis, Pes ... |
OMIM:619638 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Coxa valga, Short metacarpal, Kyphosis, Failure to thrive, Hypergonadotropic... |
OMIM:248800 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Tapered finger, Short foot, Pes cavus, Cryptorchidism, Thick eyebrow, Pes planus |
OMIM:309585 |
| 15Q11Q13 Microduplication Syndrome |
|
Joint hyperflexibility, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Distal symphalangism, Coxa vara, Short 1st metacarpal, Radial bowing, Ivo... |
OMIM:210720 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Lumbar scoliosis, Secondary amenorrhea, Lower limb undergrowth, Bo... |
OMIM:612847 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand, ... |
OMIM:603543 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... |
OMIM:614900 |
| Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... |
OMIM:607326 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac... |
ORPHA:1927 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Primary amenorrhea, Clinodactyly, Osteopenia, Cryptorchidism, Hypogonadotropic hypogonadism, Ectr... |
OMIM:147950 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Micrognathia, Radio... |
OMIM:194350 |
| Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Joint dislocation, Coxa valga, Accelerated skeletal maturation, Cone-shape... |
ORPHA:1240 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Slender build, Small f... |
OMIM:608154 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... |
ORPHA:93322 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Absent forearm, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split... |
OMIM:119100 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Broad foot, Micrognathia, Caudal interpedicular narrowing, Broad hallux,... |
ORPHA:439822 |
| Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Flexion contracture, Intervertebral space narrowing, Abnormality of the elbow, Short... |
ORPHA:263463 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Irregular vertebral endplat... |
OMIM:612350 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Short toe, Hypoplastic iliac wing, Short foot, Short metacarpal, Short l... |
OMIM:611717 |
| Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta... |
OMIM:146000 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Postaxial polydactyly |
OMIM:615985 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of fibula morphology, Bowing of ... |
ORPHA:3035 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Decreased response to growth hormone stimulation test, Finger s... |
ORPHA:1263 |
| Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... |
OMIM:620019 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... |
OMIM:156530 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hypogonadism, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot ... |
OMIM:615994 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Split hand, Talipes equinovarus |
OMIM:607831 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Genu valgum, Coxa valga, Hypoplasia of the odontoid process, Irregular carpal bo... |
OMIM:226980 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Thenar muscle weakness, Lower limb muscle weakness, Thenar muscle atrophy, Split hand, First dors... |
OMIM:270685 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Obesity, Cubitus valgus, Short foot |
OMIM:300577 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Low urinary cyclic AMP response t... |
OMIM:612462 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, Limb muscle weak... |
OMIM:118220 |
| Achondroplasia |
|
Genu varum, Short femoral neck, Rhizomelia, Short ribs, Radial bowing, Ulnar bowing, Short femur,... |
OMIM:100800 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly |
OMIM:614257 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormally s... |
ORPHA:2900 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, External ... |
ORPHA:65759 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly |
OMIM:132450 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... |
ORPHA:166016 |
| Zechi-Ceide Syndrome |
|
Short metatarsal, Short distal phalanx of finger, Long foot, Sandal gap |
OMIM:612916 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finge... |
OMIM:614326 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology |
ORPHA:217266 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Delayed closure of the anterior fontanelle, Microgna... |
OMIM:259600 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Hand oligodactyly, Proximal placement of th... |
OMIM:602418 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micrognathia, Micromelia, Split hand, Abnormality of the urethra, Brachydactyl... |
ORPHA:2145 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Short femoral neck, Short metacarpal, Small hand, Rhizomelia, Clinodactyly, C... |
OMIM:614813 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Abnormality of the scrotum, Short 5th finger, Bifid scrotum, Microphallus, Micrognat... |
ORPHA:397590 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... |
OMIM:609945 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Congenital Vertical Talus |
|
Distal arthrogryposis, Abnormality of the foot musculature, Achilles tendon contracture, Pes plan... |
ORPHA:178382 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Radioulnar synostosis, Hypoplasia of the ulna, Broad hall... |
OMIM:212780 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femoral epiphysis, Shor... |
ORPHA:77258 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... |
OMIM:617604 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Limb undergrowth, Mesomeli... |
OMIM:601356 |
| Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
| Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Microretrognathia, Split hand, Renal hypoplasia, Nail dystrophy |
OMIM:246560 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, Talipes equinovarus |
OMIM:604563 |
| Anauxetic Dysplasia 2 |
|
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Posterior wedging ... |
OMIM:617396 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Limb u... |
OMIM:108720 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Micrognathia, Long eyelashes, Broad hallux, Syndactyly, Br... |
OMIM:613684 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Platyspondyly, Hypoplastic pelvis, H... |
ORPHA:85166 |
| Mietens Syndrome |
|
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... |
ORPHA:2557 |
| Craniosynostosis 3 |
|
Sagittal craniosynostosis, Left unicoronal synostosis, Hallux valgus, Bicoronal synostosis, Singl... |
OMIM:615314 |
| Roifman-Chitayat Syndrome |
|
Short metacarpal, Arthritis, Short neck, Osteopenia, Short metatarsal, Cone-shaped epiphysis, Umb... |
OMIM:613328 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Increased bone min... |
ORPHA:3152 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hy... |
OMIM:616723 |
| Acces Syndrome |
|
Sparse scalp hair, Hip dysplasia, Hip dislocation, Clinodactyly of the 5th finger, Supernumerary ... |
OMIM:619959 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Micrognathia, Hypoplasia of... |
ORPHA:2256 |
| 49,Xyyyy Syndrome |
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Short 5th finger, Large hands, Abnormality of the testis size, Generalized joint laxity, Bridged ... |
ORPHA:99330 |
| Mucolipidosis Iii Alpha/Beta |
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Short long bone, Short ribs, Irregular carpal bones, Carpal bone hypoplasia, Split hand, Soft tis... |
OMIM:252600 |
| Metaphyseal Chondrodysplasia, Spahr Type |
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Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Delayed skel... |
ORPHA:2501 |
| Frontometaphyseal Dysplasia |
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Short diaphyses, Wrist flexion contracture, Camptodactyly of finger, Short phalanx of finger, Mic... |
ORPHA:1826 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
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Ulnar claw, Split hand, Foot dorsiflexor weakness, Hammertoe, Distal amyotrophy, Limb muscle weak... |
OMIM:118200 |
| Bardet-Biedl Syndrome 19 |
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Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Postaxial polyd... |
OMIM:615996 |
| Otopalatodigital Syndrome, Type I |
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Delayed closure of the anterior fontanelle, Short 4th metacarpal, Coxa valga, Abnormality of the ... |
OMIM:311300 |
| Weyers Acrofacial Dysostosis |
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Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... |
OMIM:193530 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Short 1st metacarpal, Short middle phalanx of the 5th finger, Hip osteoarthritis, Hip dysplasia, ... |
ORPHA:63442 |
| Acrodysplasia Scoliosis |
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Spina bifida occulta, Vertebral segmentation defect, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Seckel Syndrome 7 |
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Abnormal carpal morphology, Short middle phalanx of the 5th finger, Lumbar scoliosis, Hip dysplas... |
OMIM:614851 |
| 20Q11.2 Microdeletion Syndrome |
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Talipes calcaneovalgus, Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly |
ORPHA:444051 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
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Forearm undergrowth, Craniosynostosis, Lower limb undergrowth |
OMIM:218650 |
| Urban-Rogers-Meyer Syndrome |
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Camptodactyly of finger, Recurrent fractures, Hypogonadism, Toe syndactyly, Micrognathia, Clinoda... |
ORPHA:3409 |
| Shox-Related Short Stature |
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Genu valgum, Micrognathia, Lower limb undergrowth, Cubitus valgus, Ulnar radial head dislocation,... |
ORPHA:314795 |
| Greenberg Dysplasia |
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Abnormal bone ossification, Rhizomelia, Micrognathia, Abnormal pelvis bone ossification, Micromel... |
ORPHA:1426 |
| Cohen Syndrome |
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Genu valgum, Childhood-onset truncal obesity, Tapered finger, Thoracic scoliosis, Short metacarpa... |
OMIM:216550 |
| Restrictive Dermopathy 2 |
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Overtubulated long bones, Gastroesophageal reflux, Rectal prolapse, Short clavicles |
OMIM:619793 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Mesomelia, Micrognathia, Abnormal shoulder morphology, Brachydactyly |
ORPHA:1277 |
| Charcot-Marie-Tooth Disease Type 4D |
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Skewfoot, Distal upper limb muscle weakness, Upper limb amyotrophy, Abnormal foot morphology, Pes... |
ORPHA:99950 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
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Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Multinodular goiter... |
ORPHA:2091 |
| Squamous Cell Carcinoma Of The Anal Canal |
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Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
| Chromosome 2Q37 Deletion Syndrome |
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Short phalanx of finger, Short toe, Short metacarpal, Short metatarsal, Obesity |
OMIM:600430 |
| Trichorhinophalangeal Syndrome, Type I |
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Ivory epiphyses of the distal phalanges of the hand, Sparse lateral eyebrow, Avascular necrosis o... |
OMIM:190350 |
| Saul-Wilson Syndrome |
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Overtubulated long bones, Irregular vertebral endplates, Coxa valga, Short metacarpal, Enlarged e... |
OMIM:618150 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Foot polydactyly, Phocomelia, Duodenal atresia, Split hand |
ORPHA:3004 |
| Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Clubb... |
OMIM:174900 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
| Otospondylomegaepiphyseal Dysplasia |
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Short phalanx of finger, Micrognathia, Limb undergrowth, Short neck, Fibular bowing, Enlarged joi... |
ORPHA:1427 |
| Joubert Syndrome 10 |
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Hirsutism, Postaxial polydactyly |
OMIM:300804 |
| Ruvalcaba Syndrome |
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Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... |
ORPHA:3121 |
| Camptobrachydactyly |
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Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Short long bone, Cryptorchidism, Brachydactyly, Nephrocalcinosis, Postaxial polydactyly |
OMIM:615633 |
| Metaphyseal Chondrodysplasia, Schmid Type |
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Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
| Cleft-Limb-Heart Malformation Syndrome |
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Syndactyly |
OMIM:215850 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Hip osteoarthritis, Osteochondritis dissecans, Accelerated skeletal maturation, Broad hallux, Bra... |
OMIM:165800 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
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Preaxial foot polydactyly, Multinodular goiter, Bilateral triphalangeal thumbs, Renal cyst, Posta... |
OMIM:138790 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
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Pes cavus, Split hand |
OMIM:617882 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
| Osteoglophonic Dysplasia |
|
Short phalanx of finger, Broad foot, Limb undergrowth, Short neck, Short palm, Pseudoarthrosis, I... |
OMIM:166250 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Camptodactyly of finger, Premature ovarian insufficiency, Ulnar deviation of finger, Micromelia, ... |
ORPHA:2928 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Thalidomide Embryopathy |
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Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Mesomelic Dysplasia, Kantaputra Type |
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Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
| Bardet-Biedl Syndrome 9 |
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Irregular menstruation, Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Posta... |
OMIM:615986 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Genu valgum, Clinodactyly, Spindle-shaped finger, Abnormal vertebral morphology, Enlarged joints,... |
ORPHA:166024 |
| Immunodeficiency 43 |
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Radial bowing, Hypoplasia of the ulna |
OMIM:241600 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
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Short phalanx of finger, Irregular menstruation, Short metacarpal, Hypogonadism, Small for gestat... |
OMIM:101800 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femo... |
OMIM:618019 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
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Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Short ribs, Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydacty... |
OMIM:617405 |
| Progressive Osseous Heteroplasia |
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Limitation of joint mobility, Brachydactyly, Abnormality of the parathyroid gland, Ectopic ossifi... |
ORPHA:2762 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Short 4th metacarpal, Azoospermia, Short neck, Hypergonadotropic hypogonadism, Cubitus valgus, Ob... |
ORPHA:2183 |
| Isolated Osteopoikilosis |
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Tarsal sclerosis, Abnormal long bone morphology, Abnormal bone ossification, Increased bone miner... |
ORPHA:166119 |
| Desbuquois Dysplasia 2 |
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Short phalanx of finger, Broad foot, Advanced ossification of carpal bones, Coxa valga, Hip dislo... |
OMIM:615777 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, Genu valgum, Metaphyseal cupping, Short metacarpal, Broad middle phalanx of fing... |
OMIM:618853 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
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Aplasia/Hypoplasia of the thumb, Renal insufficiency, Abnormal metacarpal morphology, Abnormality... |
ORPHA:1307 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Micrognathia, Clinodactyly, Hypoplasia of the ulna |
ORPHA:357175 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Infertility, Clinodactyly, Azoospermia, Syndactyly, Narrow pa... |
ORPHA:1445 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Abnormality of the elbow... |
ORPHA:3098 |
| Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius |
OMIM:602200 |
| Arthrogryposis, Distal, Type 7 |
