Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Brachydactyly, Type D |
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Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Dystelephalangy |
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Curved distal phalanx of the 5th finger |
OMIM:128000 |
Brachydactyly, Type A3 |
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Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Upper Limb Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
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Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Thiemann Disease |
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Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Ulnar Hypoplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Radial Hemimelia |
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Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Digital Arthropathy-Brachydactyly, Familial |
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Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Liebenberg Syndrome |
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Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Postaxial Oligodactyly, Tetramelic |
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Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Broad Terminal Phalanges, Familial |
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Broad distal phalanx of the toes, Broad distal phalanx of finger |
OMIM:602071 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Curved Nail Of Fourth Toe |
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Short distal phalanx of finger |
OMIM:219070 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... |
ORPHA:1040 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Absent proximal radial epiphyses, Elbow flexion contracture, Forearm undergrowth, Dislocated radi... |
OMIM:249600 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Decreased body weight, Broad phalanx, Short phalanx of finger... |
OMIM:618724 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger |
OMIM:119650 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific... |
OMIM:600969 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Pseudoachondroplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles... |
ORPHA:750 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Dislocated radial head |
OMIM:266255 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... |
ORPHA:3104 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly |
ORPHA:9 |
Paternal Uniparental Disomy Of Chromosome X |
|
Decreased testicular size, Cubitus valgus, Short metacarpal, Infertility |
ORPHA:261524 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... |
ORPHA:75508 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Acromicric Dysplasia |
|
Short metacarpal, Short foot, Cone-shaped epiphysis, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... |
OMIM:617974 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cryptorchidism |
ORPHA:2489 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Limited elbow extension, Short metatarsal, Small ha... |
OMIM:180870 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Acromegaloid Facial Appearance Syndrome |
|
Tapered finger, Large for gestational age, Micrognathia, Large hands, Short 5th metacarpal |
OMIM:102150 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... |
OMIM:618395 |
Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly |
ORPHA:1795 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Pseudoachondroplasia |
|
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... |
OMIM:177170 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... |
OMIM:194350 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... |
OMIM:601356 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb |
OMIM:179270 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... |
ORPHA:2804 |
Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... |
OMIM:619135 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Hypoplas... |
OMIM:615222 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... |
ORPHA:3210 |
Acromicric Dysplasia |
|
Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal... |
ORPHA:969 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,... |
ORPHA:3035 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... |
ORPHA:1837 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
Winchester Syndrome |
|
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular necrosis of... |
ORPHA:2557 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph... |
OMIM:156510 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia |
ORPHA:1277 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Cone-shaped e... |
OMIM:184260 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... |
ORPHA:79445 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Delayed ossification of carpal bones, Short femoral neck, Decreased bo... |
OMIM:618392 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Laron Syndrome |
|
Limb undergrowth, Abnormal joint morphology, Short long bone, Delayed menarche |
OMIM:262500 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus,... |
OMIM:618019 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Obesity, Azoospermia, Cubitus valgus, Short 4th metacarpal |
ORPHA:2183 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification of carpal bones, Obesit... |
OMIM:614613 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Brachydactyly |
OMIM:603233 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... |
ORPHA:2631 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
ORPHA:357175 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with narrow diaphys... |
OMIM:608154 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Rhyns Syndrome |
|
Short long bone, Radial bowing, Short femoral neck, Brachydactyly |
OMIM:602152 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio... |
OMIM:600920 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... |
OMIM:154780 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl... |
ORPHA:2619 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
OMIM:615162 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... |
ORPHA:2928 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... |
OMIM:207410 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala... |
ORPHA:2741 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly o... |
OMIM:614851 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th metacarpal |
OMIM:619638 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology,... |
ORPHA:63442 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho... |
OMIM:617405 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... |
OMIM:620076 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Enlarged joints, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Small for gestational age, Abnormal metatarsal morphology, Flat capital fem... |
ORPHA:93360 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... |
ORPHA:2879 |
Satoyoshi Syndrome |
|
Short metacarpal, Short metatarsal, Amenorrhea, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Obesity, Brachydactyly |
OMIM:612463 |
20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly |
ORPHA:444051 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia... |
OMIM:156500 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis, Thenar... |
OMIM:612350 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, A... |
ORPHA:99330 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular e... |
ORPHA:263463 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Obesity, Hip dysplasia, Limb ... |
ORPHA:319675 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan... |
OMIM:165800 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal... |
ORPHA:2900 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Short to... |
OMIM:611717 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Hypoplastic scapulae, Iliac crest serra... |
OMIM:607326 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ... |
OMIM:184252 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transverse palmar crea... |
OMIM:615777 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi... |
ORPHA:1427 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Auriculoosteodysplasia |
|
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... |
ORPHA:114 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... |
ORPHA:166011 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac... |
OMIM:271640 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Split hand, Abnormal pelv... |
OMIM:157900 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert... |
OMIM:268310 |
Keipert Syndrome |
|
Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle... |
OMIM:618853 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Micrognathia |
ORPHA:2513 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Mesomelia, Short ti... |
OMIM:605274 |
Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Micrognathia, Cryptorchidism, Short toe, Short metatarsal, Upper ... |
ORPHA:439822 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... |
ORPHA:2496 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... |
ORPHA:916 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Epiphyseal dyspla... |
OMIM:226980 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyda... |
OMIM:211750 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Short metatarsal, Cubitus valgus, F... |
OMIM:248800 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypogonadism, Micromelia, Cryptorchidism |
ORPHA:85173 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... |
OMIM:256050 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... |
ORPHA:2980 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Short distal phalanx of finger |
OMIM:309549 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia of the radius, B... |
ORPHA:96097 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Obesity, Short phalanx of finger, Type E br... |
OMIM:600430 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis... |
OMIM:215150 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes ... |
OMIM:612626 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... |
ORPHA:93329 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Arthropathy, Coxa vara, Arthritis, Congenital finger flexion contract... |
OMIM:208250 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon... |
OMIM:610915 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ... |
OMIM:616651 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Abnormal fibula morphology, Genu valgum, Meta... |
ORPHA:85198 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestational age, Short... |
OMIM:614813 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo... |
OMIM:184250 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Flat acetabular roof, Large han... |
ORPHA:1801 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... |
OMIM:304120 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Failure to thrive, Short 4th metacarpa... |
OMIM:169400 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Slender long bone, Metacarpal os... |
ORPHA:2774 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl... |
OMIM:263750 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... |
ORPHA:3429 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Shortening of all... |
OMIM:616809 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em... |
OMIM:613390 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Obesity, Hypogonadism, Short finger, Brachydactyly |
OMIM:103580 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand |
ORPHA:177910 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Steel Syndrome |
|
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... |
OMIM:615155 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar... |
OMIM:616723 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Osteogenesis Imperfecta, Type Xix |
|
Bowing of the arm, Rhizomelia, Bowing of the legs |
OMIM:301014 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Short palm, Pseudoarthrosis, Short phalanx of finger, Broad metacarpals, Short ... |
OMIM:166250 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnorm... |
ORPHA:1842 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Cohen Syndrome |
|
Short metacarpal, Small for gestational age, Single transverse palmar crease, Tapered finger, Mic... |
OMIM:216550 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... |
OMIM:218600 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis involving t... |
OMIM:166300 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,... |
OMIM:617396 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum |
ORPHA:2611 |
Achondroplasia |
|
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Abnorm... |
ORPHA:15 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Single transverse palmar cr... |
OMIM:114300 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly |
ORPHA:921 |
Diastrophic Dysplasia |
|
Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb... |
ORPHA:628 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal |
ORPHA:66518 |
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ... |
OMIM:106995 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... |
OMIM:618569 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b... |
ORPHA:503 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... |
OMIM:620099 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... |
ORPHA:1597 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1777 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph... |
ORPHA:1824 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal... |
OMIM:618658 |
Cocaine Embryofetopathy |
|
Short distal phalanx of finger |
ORPHA:1911 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Coxa valga, Micrognathia, Advanced ossification of carpal bon... |
OMIM:618363 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen... |
OMIM:244600 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Small for gestational age, Cryptorchidism, Neonatal epiphyseal s... |
OMIM:101800 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Short 4th metacarpal, Short clavicles, Joint dislocation |
OMIM:606220 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Abnormal diaphysis morphology, Abnorm... |
ORPHA:1657 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Martsolf Syndrome 1 |
|
Short metacarpal, Hypogonadotropic hypogonadism, Micrognathia, Metatarsus adductus, Slender ulna,... |
OMIM:212720 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidism, Patellar dislocation,... |
ORPHA:93328 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Brachydactyly |
OMIM:619692 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Obesity, Hypogonadism, Brachydactyly |
OMIM:612462 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... |
OMIM:600002 |
Roifman-Chitayat Syndrome |
|
Cone-shaped epiphysis, Arthritis, Short metacarpal, Short metatarsal |
OMIM:613328 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl... |
ORPHA:1515 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Brachydactyly |
ORPHA:2762 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap... |
ORPHA:177 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... |
ORPHA:444002 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa valga, Bowing of the legs, Coxa vara, Wormian bones, Bowing of the arm |
OMIM:619131 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Square pelvis bone, Shor... |
ORPHA:166272 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Micrognathia, Short foot, Abnormal diaphysis morphology,... |
ORPHA:3409 |
Potocki-Shaffer Syndrome |
|
Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly |
ORPHA:1426 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep... |
ORPHA:1458 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... |
OMIM:607095 |
Nance-Horan Syndrome |
|
Short metacarpal |
ORPHA:627 |
Trichorhinophalangeal Syndrome, Type I |
|
Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of proximal inter... |
OMIM:190350 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Short metatarsal, Small hand, S... |
OMIM:170390 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl... |
OMIM:226960 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella |
ORPHA:1149 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Micrognathia, Bowing of the legs, Wormian bones, Bowing ... |
OMIM:613849 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Say Syndrome |
|
Tapered finger, Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Micrognathia |
OMIM:181180 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Gnathodiaphyseal Dysplasia |
|
Bowing of the long bones, Diaphyseal cortical sclerosis |
OMIM:166260 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... |
OMIM:600325 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Bilateral single transverse palmar creases, ... |
ORPHA:1001 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Hypop... |
ORPHA:168549 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum |
ORPHA:1035 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Advan... |
OMIM:224400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa vara, Narrow gre... |
OMIM:602557 |
Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod... |
OMIM:300590 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger |
OMIM:155050 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of th... |
OMIM:619451 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor... |
ORPHA:2635 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Single transverse palmar crease, Adducted thumb |
OMIM:620062 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Microgna... |
ORPHA:1225 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac... |
OMIM:612813 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger |
ORPHA:86822 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb |
OMIM:617784 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Small for gestational age, Single transverse pal... |
OMIM:123450 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal... |
ORPHA:3051 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m... |
ORPHA:50945 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... |
ORPHA:3138 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip dislocation, Proximal plac... |
OMIM:600373 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa... |
OMIM:272460 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... |
OMIM:269250 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Micrognathia, Metaphyse... |
OMIM:250410 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... |
OMIM:609465 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... |
OMIM:215140 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of... |
ORPHA:1147 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Azoospermia, Broad finger, ... |
OMIM:300845 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... |
ORPHA:2662 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Sho... |
OMIM:605130 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Hypertrichosis Cubiti |
|
Abnormality of the elbow, Rhizomelia, Micromelia |
ORPHA:2220 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Metopic synostosis, Hypoplasia of the ulna, Ankle clonus, Lambdoidal craniosynostosis |
OMIM:615398 |
Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodysplasia, Cr... |
ORPHA:166035 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Flared metaphysis, Hypoplastic pubic bone, Short long bone, Small epiphyses, Delaye... |
ORPHA:93346 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral ... |
ORPHA:453510 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Brachydactyly |
ORPHA:2145 |
Alagille Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger |
ORPHA:52 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ... |
ORPHA:3265 |
Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral crypto... |
OMIM:206920 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb |
ORPHA:1794 |
Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Micrognathia, Craniosynostosis, Hypoplasia of the odont... |
ORPHA:508533 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab... |
ORPHA:3130 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly |
OMIM:266265 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger |
ORPHA:2776 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly |
ORPHA:2824 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Cryptorchidism, Accessor... |
OMIM:150250 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co... |
OMIM:259600 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum |
ORPHA:1295 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Brachydactyly, Limited elbow extension and supination, Dislocated radial head |
ORPHA:401935 |
Marinesco-Sjögren Syndrome |
|
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... |
ORPHA:559 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ... |
ORPHA:95699 |
Hall-Riggs Syndrome |
|
Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Failure to thriv... |
ORPHA:2107 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi... |
OMIM:136760 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Joint dislocation, Scapular winging, Single transverse palmar crease, Micromel... |
OMIM:618870 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Refsum Disease |
|
Abnormal epiphysis morphology, Short metacarpal, Hammertoe |
ORPHA:773 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Wormian bones, Tibial bowing, A... |
OMIM:166210 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short 4th metacarpal, Small hand, Micrognathia |
ORPHA:1787 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the radius, Aplasia/Hypoplasia of th... |
ORPHA:245 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Premature ovarian insufficiency, Small for gestational age, Metaphyseal scleros... |
ORPHA:221008 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Short metatarsal, Obesi... |
ORPHA:79444 |
Laron Syndrome |
|
Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydactyly |
ORPHA:633 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific... |
ORPHA:353298 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short foot, Wormian bones, Upper limb undergrowth, Toe clinodactyly |
ORPHA:166277 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Small for gestational age, Micromelia, Wide distal femoral metaphysis, Del... |
OMIM:613320 |
Alopecia-Intellectual Disability Syndrome |
|
Split hand, Brachydactyly |
ORPHA:2850 |
Opsismodysplasia |
|
Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm... |
ORPHA:2746 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Kn... |
OMIM:601559 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Broad long bon... |
OMIM:614376 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Short metacarpal, Small for gestational age, Aplasia/hypoplasia involving bone... |
ORPHA:221016 |
Geleophysic Dysplasia 1 |
|
Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f... |
OMIM:231050 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:2760 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia |
ORPHA:171866 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Micrognathia, Camptodactyly of finger, Brachydactyly |
ORPHA:2863 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist... |
OMIM:620073 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Pre... |
ORPHA:93352 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
Pallister-Hall-Like Syndrome |
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Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... |
OMIM:241800 |
Osteogenesis Imperfecta, Type Xvi |
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Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Small for gestational... |
OMIM:616229 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Cryptorchidism,... |
ORPHA:1865 |
Qazi-Markouizos Syndrome |
|
Cryptorchidism, Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger |
OMIM:309620 |
Atelosteogenesis Type Iii |
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Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Erythrokeratodermia Variabilis |
|
Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger |
ORPHA:317 |
Seckel Syndrome 1 |
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Ivory epiphyses, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Single transverse ... |
OMIM:210600 |
Carpenter Syndrome 1 |
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Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... |
OMIM:201000 |
Achondrogenesis Type 2 |
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Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... |
ORPHA:93296 |
Rothmund-Thomson Syndrome |
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Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Aplasia/Hypoplasia of the... |
ORPHA:2909 |
Al-Raqad Syndrome |
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Sandal gap, Brachydactyly |
OMIM:616459 |
Woolly Hair Nevus |
|
Brachydactyly |
ORPHA:79414 |
Mohr Syndrome |
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Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F... |
OMIM:252100 |
Rudiger Syndrome |
|
Short digit, High axial triradius, Single transverse palmar crease |
OMIM:268650 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
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Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Achondrogenesis, Type Ia |
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Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Spastic Paraplegia 20, Autosomal Recessive |
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Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Br... |
OMIM:275900 |
Coffin-Lowry Syndrome |
|
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Large hands,... |
ORPHA:192 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Short 5th metacarpal |
OMIM:617877 |
Fetal Encasement Syndrome |
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Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, F... |
OMIM:300232 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu... |
OMIM:255800 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to... |
ORPHA:1327 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Antecubital pterygium, Popliteal ptery... |
OMIM:619339 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th... |
ORPHA:137834 |
Microphthalmia With Limb Anomalies |
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Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte... |
ORPHA:163654 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... |
ORPHA:3015 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... |
OMIM:135100 |
Ollier Disease |
|
Abnormal metaphysis morphology, Micromelia |
ORPHA:296 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Epiphyseal stippling, Hypogonadism, Short distal phalanx of finger |
OMIM:302950 |
Fanconi Anemia, Complementation Group P |
|
Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb |
OMIM:613951 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda... |
OMIM:618659 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Omodysplasia 2 |
|
Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ... |
OMIM:164745 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Advanced oss... |
OMIM:615349 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Chromosome 8Q21.11 Deletion Syndrome |
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Syndactyly, Short metacarpal, Micrognathia, Cryptorchidism, Camptodactyly, Absent palmar crease |
OMIM:614230 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,... |
OMIM:616145 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Small hand, Narrow palm, Short foot, Camptodactyly, Clinodact... |
OMIM:615547 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, ... |
OMIM:614592 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Small for gestational age, Wormian bones, Decreased fibular diamet... |
OMIM:616897 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U... |
OMIM:604757 |
Holzgreve Syndrome |
|
Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2167 |
Muenke Syndrome |
|
Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
Achondrogenesis Type 1A |
|
Short palm, Short foot, Micromelia, Micrognathia |
ORPHA:93299 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Broad 1st metacarpal, S... |
ORPHA:79443 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Short metacarpal, Deep palmar crease |
OMIM:617190 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th f... |
OMIM:619269 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M... |
ORPHA:570 |
Lujan-Fryns Syndrome |
|
Micrognathia, Arachnodactyly, Camptodactyly of finger, Brachydactyly |
ORPHA:776 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... |
OMIM:236500 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:613604 |
Histidinuria Due To A Renal Tubular Defect |
|
Short middle phalanx of finger, Rounded middle phalanx of finger |
OMIM:235830 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Brachydactyly |
ORPHA:3085 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ge... |
OMIM:620072 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... |
OMIM:210710 |
Pallister-Hall Syndrome |
|
Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi... |
ORPHA:672 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor... |
ORPHA:2655 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Short phalanx of finger |
OMIM:208060 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Micrognathia, Craniosynostosis, Brachydactyly |
OMIM:618265 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Bilateral single transverse palmar creases, Avascular necrosis of the capital ... |
ORPHA:502 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Short middle phalanx of finger, Rounded middle phalanx of finger |
ORPHA:2158 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... |
ORPHA:1005 |
Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm |
ORPHA:238750 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... |
OMIM:146510 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, Hypoplastic iliac wing, 4-5 t... |
OMIM:260660 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... |
ORPHA:896 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Micrognat... |
ORPHA:221120 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Ulnar deviation of the hand, Congenital hip dislocation, Crypt... |
OMIM:617137 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Rhizomelia, Craniosynostosis, Brachydactyly |
ORPHA:2645 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th... |
ORPHA:1305 |
Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Short foot, Short palm, Clinodac... |
ORPHA:264200 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Adducted thumb, Failure to thrive, Bilateral single transverse palm... |
ORPHA:50810 |
Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi... |
OMIM:224410 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bo... |
OMIM:608612 |
Achondrogenesis Type 1B |
|
Short foot, Talipes equinovarus, Micromelia, Micrognathia |
ORPHA:93298 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Micrognat... |
ORPHA:84 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Recurrent mandibular subluxa... |
OMIM:225410 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular... |
OMIM:618162 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Clinodactyly, Micrognathia, Brachydactyly |
OMIM:617808 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th... |
OMIM:618914 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, 2-3 ... |
ORPHA:3041 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Brachydactyly |
ORPHA:436245 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
Developmental And Epileptic Encephalopathy 95 |
|
Short digit, Short fourth metatarsal, Single transverse palmar crease, Cryptorchidism, Clinodacty... |
OMIM:618143 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Short metatarsal, Broad palm, Elbow flexion contracture, Short finger, Broad ph... |
OMIM:608328 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Short ribs, Micromelia |
OMIM:600972 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal |
OMIM:609053 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla... |
OMIM:311900 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Wide cranial sutures, Micrognathia, Radial head subluxation, Cutaneous f... |
OMIM:601390 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
OMIM:616354 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma... |
ORPHA:1798 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutures, Micrognathia, Cryptor... |
OMIM:615546 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Brachydactyly |
OMIM:247410 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Temtamy Syndrome |
|
Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly |
OMIM:218340 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... |
OMIM:268300 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly |
ORPHA:3306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Sandal gap, Small hand, Short foot, Brachydactyly |
OMIM:300354 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Large hands, Broad thumb, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:1770 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r... |
ORPHA:2021 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly |
OMIM:618381 |
Schisis Association |
|
Small for gestational age, Micromelia |
ORPHA:63862 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Cryptorchidism, Foot acroosteolysis, Osteolytic defects of ... |
OMIM:102500 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly |
ORPHA:1318 |
Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Craniosynostosis, Short ribs, Widely patent fontanelles and sutur... |
OMIM:241500 |
Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Micromelia, Brachydactyly |
ORPHA:93274 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Micromelia |
ORPHA:2772 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho... |
OMIM:615789 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Large hands, Abnormal metacarpal mor... |
ORPHA:3219 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Prominent metopic ridge, Rhizomelia, Craniosynostosis, Micrognathia, Phalangeal cone-shaped epiph... |
OMIM:266920 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Cryptorchidism, Mesomelia, Clinodactyly, Short phalanx of finger, Broad... |
OMIM:616894 |
Fgfr2-Related Bent Bone Dysplasia |
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Hypoplastic ischia, Bowing of the legs, Micrognathia, Metopic depression, Short clavicles, Steep ... |
ORPHA:313855 |
Rubinstein-Taybi Syndrome |
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Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Pa... |
ORPHA:2916 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Ost... |
OMIM:265800 |
Tonne-Kalscheuer Syndrome |
|
Micrognathia, Broad thumb, Brachydactyly |
OMIM:300978 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Hypoplasia ... |
OMIM:305400 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... |
ORPHA:1452 |
Specific Granule Deficiency 2 |
|
Sandal gap, Brachydactyly |
OMIM:617475 |
15Q24 Microdeletion Syndrome |
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Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Small hand, Clin... |
ORPHA:94065 |
Dahlberg-Borer-Newcomer Syndrome |
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Brachydactyly, Short distal phalanx of finger |
ORPHA:1563 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Micrognathia, Cryptorchidism, Humeroradial synostosis, Hypoplasi... |
ORPHA:3404 |
Dpm1-Cdg |
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Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t... |
ORPHA:79322 |
Gorlin Syndrome |
|
Palmar pits, Vertebral fusion, Arachnodactyly, Brachydactyly |
ORPHA:377 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger |
OMIM:601355 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... |
OMIM:614701 |
Otopalatodigital Syndrome Type 2 |
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Bowing of the long bones, Tarsal synostosis, Short hallux, Micrognathia, Camptodactyly of finger,... |
ORPHA:90652 |
Spermatogenic Failure, X-Linked, 7 |
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Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Coffin-Siris Syndrome 2 |
|
Brachydactyly, Sandal gap, Short distal phalanx of finger |
OMIM:614607 |
Robinow Syndrome, Autosomal Dominant 2 |
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Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... |
OMIM:616331 |
Crane-Heise Syndrome |
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Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Cryptor... |
ORPHA:1512 |
Sponastrime Dysplasia |
|
Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Ivory epiphyses of th... |
ORPHA:93357 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation |
OMIM:616507 |
Frank-Ter Haar Syndrome |
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Bowing of the long bones, Delayed cranial suture closure, Micrognathia, Metatarsus adductus, Flar... |
OMIM:249420 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ... |
ORPHA:1786 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases |
ORPHA:2083 |
Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Brachydactyly |
ORPHA:2180 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Sho... |
OMIM:269860 |
Becker Nevus Syndrome |
|
Upper limb asymmetry, Abnormal tibia morphology, Micromelia |
ORPHA:64755 |
Achondrogenesis |
|
Micromelia, Micrognathia |
ORPHA:932 |
Smith-Magenis Syndrome |
|
Brachydactyly, Broad palm, Abnormal forearm morphology, Short palm |
OMIM:182290 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly |
OMIM:620237 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi... |
ORPHA:1323 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Advanced ossification of carpal bones, Obesity |
OMIM:616831 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Focal Dermal Hypoplasia |
|
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Cryptorchidism, Postaxial hand poly... |
OMIM:305600 |
Microcephaly-Capillary Malformation Syndrome |
|
Clinodactyly, Brachydactyly, Short distal phalanx of finger |
OMIM:614261 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Small for gestational age, Single transverse palmar crease |
ORPHA:79243 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f... |
ORPHA:488642 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi... |
ORPHA:435638 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... |
ORPHA:974 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Poly... |
OMIM:109400 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of the odontoid process, Del... |
OMIM:616007 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... |
ORPHA:371428 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Overweight... |
ORPHA:763 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Genu valgum, Postaxial foot p... |
OMIM:225500 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Abnormal pelvic girdle bone morp... |
ORPHA:289 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ... |
OMIM:617061 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Prominent m... |
OMIM:136140 |
Fanconi Anemia, Complementation Group F |
|
Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Absent thumb |
OMIM:603467 |
Distal Deletion 10Q |
|
Scapular winging, Prominent metopic ridge, Sandal gap, Single transverse palmar crease, Craniosyn... |
ORPHA:96148 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral... |
ORPHA:1772 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios... |
OMIM:614099 |
Müllerian Aplasia And Hyperandrogenism |
|
Cubitus valgus, Brachydactyly |
ORPHA:247768 |
Aredyld Syndrome |
|
Abnormal pelvic girdle bone morphology, Brachydactyly |
ORPHA:1133 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... |
OMIM:303600 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Brachydactyly |
OMIM:619995 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short metatarsal, Obesity, Cubitus valgus, Failure to thrive, Short distal phal... |
OMIM:617157 |
Gm1-Gangliosidosis, Type Ii |
|
Hypoplastic vertebral bodies, Failure to thrive, Limb undergrowth, Coxa valga |
OMIM:230600 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent... |
OMIM:227650 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Small for gestational age, Enlarged joints, Av... |
ORPHA:2044 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Micromelia, Short palm, Failure to thrive, Brachydactyly |
ORPHA:2176 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly |
OMIM:619479 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Hydrolethalus |
|
Cryptorchidism, Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Glutamine Deficiency, Congenital |
|
Micromelia, Camptodactyly |
OMIM:610015 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly |
OMIM:618027 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Weight loss, Abnormal diaphysis morphology, Abnormal epiphysis morpholog... |
ORPHA:354 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... |
ORPHA:99646 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia |
ORPHA:3169 |
Kagami-Ogata Syndrome |
|
Limb undergrowth, Long fingers, Coxa valga, Micrognathia |
OMIM:608149 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,... |
ORPHA:1292 |
Monosomy 18P |
|
Micrognathia, Brachydactyly |
ORPHA:1598 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Short foot, Large hands, Talipes equinovarus, Cubitus valgus, Short distal phalanx ... |
OMIM:300534 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Narrow pelvis bone, Truncal obesity, Abnormal epiphysis morphology, Hypopl... |
ORPHA:2637 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial ... |
OMIM:601812 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... |
OMIM:178110 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Short distal phalanx of finger |
OMIM:118450 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Macroorchidism |
ORPHA:8 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrowth, Juvenil... |
ORPHA:1855 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... |
ORPHA:2754 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat... |
ORPHA:397715 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Micrognathia, Camptodactyly |
OMIM:619123 |
Cinca Syndrome |
|
Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd... |
ORPHA:1451 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Short long bone, Short palm, Bicoronal synostosis, Brachydactyly |
OMIM:619184 |
Rin2 Syndrome |
|
Brachydactyly |
ORPHA:217335 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger |
OMIM:239300 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... |
ORPHA:2886 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Clinodactyly, Brachydactyly |
OMIM:217980 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... |
OMIM:613848 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Micrognathia, Brachydactyly |
ORPHA:2075 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb |
OMIM:314390 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Alg8-Cdg |
|
Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Short... |
ORPHA:1708 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem... |
OMIM:610759 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Drumstick terminal phalanges |
OMIM:612938 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619680 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly... |
OMIM:200110 |
Trisomy 8Q |
|
Deep palmar crease, Micrognathia, Camptodactyly of finger, Brachydactyly |
ORPHA:1752 |
Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Proximal placement of ... |
OMIM:261540 |
Mucolipidosis Ii Alpha/Beta |
|
Hypoplastic scapulae, Craniosynostosis, Coxa valga, Micrognathia, Hypoplasia of the odontoid proc... |
OMIM:252500 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi... |
OMIM:122470 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ... |
ORPHA:99228 |
Monosomy X |
|
Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ... |
ORPHA:99226 |
Turner Syndrome |
|
Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ... |
ORPHA:881 |
Occipital Horn Syndrome |
|
Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa... |
ORPHA:198 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia |
OMIM:601162 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... |
OMIM:214800 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:819 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth, Failure to thrive, Hip dislocation |
OMIM:618005 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
ORPHA:397709 |
Slc39A8-Cdg |
|
Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexion contractu... |
ORPHA:468699 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova... |
ORPHA:1358 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Micrognathia, Coxa valga, Flared metaphysis, Hip dislocation... |
OMIM:309350 |
Orthostatic Hypotension 1 |
|
Brachydactyly |
OMIM:223360 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Frontorhiny |
|
Finger clinodactyly, Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly |
ORPHA:391474 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Brachydactyly |
OMIM:620156 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
3C Syndrome |
|
Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Br... |
ORPHA:7 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly |
OMIM:608624 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Large for gestational age, Tibial bowing, Hypoplas... |
ORPHA:96334 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius |
ORPHA:140952 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Cryptorchidism, Clinodactyly, Truncal obesity |
OMIM:616541 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Irregular menstruation, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis ... |
OMIM:616482 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finger, Congenital ... |
OMIM:304110 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Craniosynostosis, Brachydactyly |
ORPHA:457193 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:620107 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Weill-Marchesani Syndrome 1 |
|
Broad palm, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly |
OMIM:277600 |
Short Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3163 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Micrognathia, Tapered finger |
OMIM:619312 |
Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
Craniofacioskeletal Syndrome |
|
Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinodactyly of th... |
OMIM:300712 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia |
ORPHA:3412 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Prominent metopic ridge, Cryptorchidism, 2-3 toe syndactyly, Broad f... |
ORPHA:488632 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis morphology, H... |
ORPHA:800 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Kleefstra Syndrome 1 |
|
Talipes equinovarus, Single transverse palmar crease, Brachydactyly |
OMIM:610253 |
Down Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Sandal gap, Bilateral single transverse palmar cre... |
ORPHA:870 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio... |
ORPHA:3206 |
Kabuki Syndrome 2 |
|
Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly |
OMIM:300867 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Micrognathia, Av... |
OMIM:150230 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg... |
ORPHA:235 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchidism, Patellar aplasia, Infe... |
OMIM:606170 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Short foot, Thickened cortex of long bones, Broad femoral neck, Distal shortening of ... |
ORPHA:488434 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... |
OMIM:614188 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Micrognathia, Crypt... |
OMIM:180700 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:601353 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal distal phalanx morphology of finger, Bilateral single transverse palmar creases, Microme... |
ORPHA:2636 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Elbow dislocation, Cryptor... |
ORPHA:99776 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral retroversion,... |
OMIM:610682 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... |
OMIM:192350 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,... |
ORPHA:2658 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Brachydactyly, Micrognathia, Short distal phalanx of finger |
ORPHA:2959 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, P... |
OMIM:619297 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Micrognathia, Bif... |
ORPHA:97360 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Delayed closure of the anterior fontanelle, Microgn... |
ORPHA:96182 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath... |
ORPHA:2753 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Clinodactyly of the 5th fing... |
ORPHA:1974 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
Primary Ciliary Dyskinesia |
|
Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Macs Syndrome |
|
Micrognathia, Single transverse palmar crease, Brachydactyly |
OMIM:613075 |
White-Sutton Syndrome |
|
Micrognathia, Hypoplastic cervical vertebrae, Wormian bones, Broad thumb, Brachydactyly |
OMIM:616364 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Maternal Phenylketonuria |
|
Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb |
ORPHA:2209 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... |
ORPHA:2750 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas... |
ORPHA:3003 |
Myhre Syndrome |
|
Brachydactyly, Abnormal epiphysis morphology, Short palm, Large iliac wing, Abnormal metaphysis m... |
ORPHA:2588 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Long ... |
OMIM:256520 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge... |
OMIM:200990 |
Ayme-Gripp Syndrome |
|
Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly |
OMIM:601088 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Micrognathia, Long hallux, Brachydactyly |
OMIM:259775 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing... |
ORPHA:404448 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fourth finger distal ... |
OMIM:618050 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Crypt... |
OMIM:613457 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short lo... |
OMIM:139210 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd... |
ORPHA:1521 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Small for gestational age, Broad palm, Limb undergrowth, Failure to thrive |
ORPHA:99843 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Micrognathia, Small hand, Short foot, Bilateral talipes equinovarus, Clinodactyl... |
ORPHA:177907 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs |
OMIM:616546 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v... |
ORPHA:1340 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... |
ORPHA:364577 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Limb undergrowth, Talipes equinovarus |
OMIM:619124 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Desmosterolosis |
|
Metatarsus adductus, Failure to thrive, Micromelia, Micrognathia |
ORPHA:35107 |
Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3339 |
Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Micrognathia, Abse... |
ORPHA:955 |
Meester-Loeys Syndrome |
|
Joint dislocation, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Brachydactyly |
OMIM:300989 |
Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor... |
OMIM:190685 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p... |
OMIM:614976 |
Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Brac... |
OMIM:617062 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ... |
ORPHA:3474 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact... |
ORPHA:818 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture... |
OMIM:619777 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
C Syndrome |
|
Joint dislocation, Toe syndactyly, Bilateral single transverse palmar creases, Failure to thrive ... |
ORPHA:1308 |
Noonan Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Micrognathia, Brachydactyly |
ORPHA:648 |
Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Ce... |
OMIM:211380 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla... |
ORPHA:306542 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Micrognathia, Proximal placement of thum... |
ORPHA:199 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodacty... |
OMIM:311200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Wormian bones, Cervi... |
ORPHA:444077 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger |
ORPHA:477993 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly |
ORPHA:847 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Cryptorchidism, Polydac... |
ORPHA:464306 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad 2nd toe, Palmoplantar hyperkeratosis, Large hands, Bilateral talipes equinovarus, Camptodac... |
OMIM:280000 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent fingertip pads, Brachydactyly, Single transverse palmar crease, Short palm |
ORPHA:466950 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Brachydactyly |
ORPHA:168577 |
Osteogenesis Imperfecta |
|
Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Micrognathia, Small for ge... |
ORPHA:666 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Short foot, Camptoda... |
OMIM:309590 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Polydactyly, ... |
OMIM:613610 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Proportionate shortening of all digits, Tapered finger, Small hand, Short foot... |
ORPHA:280633 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Craniosynost... |
OMIM:616268 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Cryptorchidism, Overlapping toe, Micromelia, Micrognathia, Metatarsus adductus... |
OMIM:270400 |
Jacobsen Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Missing ribs, Brachydactyly |
OMIM:147791 |
Mgat2-Cdg |
|
Brachydactyly |
ORPHA:79329 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Long toe, Short femur, Congenital hip dislocation, Rocker bottom foot, Short h... |
ORPHA:508488 |
Neu-Laxova Syndrome |
|
Micromelia, Micrognathia, Large hands, Hypogonadism, Pterygium |
ORPHA:2671 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical vertebrae, ... |
OMIM:157800 |
Toriello-Carey Syndrome |
|
Clinodactyly, Micrognathia, Brachydactyly |
ORPHA:3338 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short palm |
ORPHA:466943 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers, Failure to thrive |
OMIM:219700 |
Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly |
ORPHA:1519 |
Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Talipes equinovarus, Brachydactyly |
OMIM:209885 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... |
OMIM:612474 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short palm, Broad toe, Postaxial polydactyly, Cryptorchidism, Postaxial hand polydactyly, 2-3 fin... |
OMIM:312870 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelvis ... |
ORPHA:93271 |
Pgm3-Cdg |
|
Brachydactyly |
ORPHA:443811 |
Noonan Syndrome 1 |
|
Male infertility, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Synovitis, Hypogona... |
OMIM:163950 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Pallister-Killian Syndrome |
|
11 pairs of ribs, Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesome... |
OMIM:601803 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Craniosynos... |
OMIM:610168 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Deep palmar crease, Micromelia |
ORPHA:1675 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Holoprosencephaly |
|
Hand polydactyly, Brachydactyly |
ORPHA:2162 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Micrognathia, Genu valgum, Talipes equinovarus, Radial deviation of finger, Clino... |
OMIM:309580 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Cystinosis, Nephropathic |
|
Male infertility, Failure to thrive in infancy, Metaphyseal widening, Genu valgum, Weight loss, M... |
OMIM:219800 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Short foot, Hip dysplasia, Foot polydactyly, Clinodact... |
ORPHA:1606 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent frontal sinuses, Male infertility |
OMIM:244400 |
Aspartylglucosaminuria |
|
Arthritis, Abnormal morphology of ulna |
ORPHA:93 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Brachydactyly |
ORPHA:201 |
Chromosome 1P36 Deletion Syndrome, Distal |
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11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Peters Plus Syndrome |
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Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ... |
ORPHA:709 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypop... |
OMIM:219000 |
Charge Syndrome |
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Clinodactyly of the 5th finger, Abnormal tibia morphology, Bifid femur, Brachydactyly |
ORPHA:138 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Brachydactyly |
ORPHA:293987 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Failure to thrive in infancy, Stippled calcification of the shoulder, Ab... |
ORPHA:51608 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |