Syndactyly Type 1 |
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Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Digital Clubbing, Isolated Congenital |
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Clubbing |
OMIM:119900 |
Syndactyly, Type Iii |
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Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
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Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Brachydactyly, Type A1 |
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Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Wahab Syndrome |
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Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Brachydactyly Type C |
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Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Thiemann Disease, Familial Form |
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Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac... |
ORPHA:3314 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Brachydactyly-Syndactyly, Zhao Type |
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Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Syndactyly Type 3 |
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Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Polydactyly, Postaxial, Type A5 |
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Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Brachydactyly Type E |
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Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Brachydactyly Type A2 |
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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Brachydactyly, Type A3 |
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Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Brachydactyly Type A1 |
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Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
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Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Epiphyseal Dysplasia, Multiple, 4 |
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Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Brachydactyly, Type A1, B |
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Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Sugarman Brachydactyly |
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Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
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Syndactyly, Short toe |
OMIM:614341 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Metacarpal 4-5 Fusion |
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Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Familial Digital Arthropathy-Brachydactyly |
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Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Cleidorhizomelic Syndrome |
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Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Epiphyseal Dysplasia, Multiple, 5 |
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Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Brachydactyly Type B |
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Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
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Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Brachydactyly, Type A4 |
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Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Digital Arthropathy-Brachydactyly, Familial |
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Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type D |
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Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Brachydactyly, Type A1, C |
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Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Multiple Synostoses Syndrome |
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Brachydactyly, Joint stiffness, Symphalangism affecting the phalanges of the hand, Cone-shaped ep... |
ORPHA:3237 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Hypertension And Brachydactyly Syndrome |
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Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Ulnar Hypoplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Polydactyly, Postaxial, Type A7 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Ulnar Hypoplasia With Mental Retardation |
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Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
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Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
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Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
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Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Liebenberg Syndrome |
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Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Split-Hand/Foot Malformation 4 |
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Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
Talo-Patello-Scaphoid Osteolysis |
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Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
ORPHA:50809 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Brachydactyly, Type E2 |
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Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
Epiphyseal Dysplasia, Multiple, 3 |
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Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific... |
OMIM:600969 |
Syndactyly Type 5 |
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Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay |
|
Metatarsus adductus, Unusual dermatoglyphics |
OMIM:112370 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Mental Retardation Syndrome, Mietens-Weber Type |
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Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
Chromosome 2Q35 Duplication Syndrome |
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Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Brachydactyly-Arterial Hypertension Syndrome |
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Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Ulnar Hypoplasia-Split Foot Syndrome |
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Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Metatarsus Varus, Type I |
|
Metatarsus adductus |
OMIM:156520 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Tetrasomy X |
|
Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra... |
ORPHA:9 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
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 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Acromicric Dysplasia |
|
Short metacarpal, Joint stiffness, Small hand, Abnormal femur morphology, Abnormal epiphysis morp... |
ORPHA:969 |
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 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612463 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Smith-Mccort Dysplasia 2 |
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Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... |
OMIM:615222 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
Exostoses With Anetodermia And Brachydactyly, Type E |
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Type E brachydactyly |
OMIM:133690 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Chromosome 2Q31.1 Duplication Syndrome |
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Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Acromegaloid Facial Appearance Syndrome |
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Micrognathia, Tapered finger, Large hands, Short 5th metacarpal, Joint hypermobility |
OMIM:102150 |
Temtamy Preaxial Brachydactyly Syndrome |
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Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Peripheral Dysostosis |
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Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
Holt-Oram Syndrome |
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Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Pseudoachondroplasia |
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Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
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Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Crossed Polysyndactyly |
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Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Coloboma Of Macula With Type B Brachydactyly |
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Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Banki Syndrome |
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Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Desbuquois Dysplasia 1 |
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Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
Acropectorovertebral Dysplasia |
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Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Jackson-Weiss Syndrome |
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Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Symphalangism, Distal |
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Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Radial Hemimelia |
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Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Syndactyly-Polydactyly-Earlobe Syndrome |
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Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Satoyoshi Syndrome |
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Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
Feingold Syndrome Type 2 |
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Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Acromesomelic Dysplasia 1 |
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Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Femur-Fibula-Ulna Complex |
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Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
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Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Osteochondrosis Of The Metatarsal Bone |
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Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Santos Syndrome |
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Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Heart-Hand Syndrome, Slovenian Type |
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Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Tarsal-Carpal Coalition Syndrome |
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Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph... |
OMIM:156510 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Mietens Syndrome |
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Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne... |
ORPHA:2557 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Short thumb, Short metacarpal |
ORPHA:2489 |
Synostoses, Tarsal, Carpal, And Digital |
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Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
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Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
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Type E brachydactyly |
ORPHA:1962 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
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Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocati... |
OMIM:618395 |
Summitt Syndrome |
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Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Short palm, Clinodacty... |
ORPHA:3210 |
Ring Chromosome 4 Syndrome |
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Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Multiple Synostoses Syndrome 3 |
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Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
Microcephaly, Short Stature, And Limb Abnormalities |
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11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Acrodysostosis |
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Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Craniosynostosis, Philadelphia Type |
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Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Split-Hand/Foot Malformation 1 |
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Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
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Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Cleft-Limb-Heart Malformation Syndrome |
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Syndactyly |
OMIM:215850 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... |
OMIM:608940 |
15Q11Q13 Microduplication Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility |
ORPHA:238446 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
Mesomelic Dysplasia, Savarirayan Type |
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Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Proximal Symphalangism |
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Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Anonychia-Ectrodactyly |
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Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Hypochondroplasia |
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Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Chromosome 15Q13.3 Deletion Syndrome |
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Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Summitt Syndrome |
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Syndactyly, Craniosynostosis |
OMIM:272350 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
Eng-Strom Syndrome |
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Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Emery-Nelson Syndrome |
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Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Hypochondroplasia |
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Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm... |
ORPHA:63442 |
Odontochondrodysplasia 1 |
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Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,... |
OMIM:184260 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia |
ORPHA:1277 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Paternal Uniparental Disomy Of Chromosome X |
|
Cubitus valgus, Short metacarpal |
ORPHA:261524 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... |
OMIM:619135 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Short metatarsal, Cone-shaped epiphysis, Arthritis |
OMIM:613328 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
OMIM:612916 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatars... |
ORPHA:439822 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck, Brachydac... |
OMIM:618392 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
ORPHA:444051 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto... |
ORPHA:2804 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossification, Short fin... |
OMIM:103580 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb |
OMIM:179270 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... |
ORPHA:3104 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Tapered finger, ... |
OMIM:612350 |
Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Dist... |
OMIM:158300 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
ORPHA:357175 |
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 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly |
ORPHA:40 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Short foot, Pes planus, Pes cavus, Tapered finger |
OMIM:309585 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly |
OMIM:300577 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar... |
ORPHA:166011 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Abnormality of the elbow, Flexion contracture, Genu valgum, Irregul... |
ORPHA:263463 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
OMIM:615162 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Limitation of joint mobility, Clinodactyly o... |
ORPHA:376 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly, Craniosynostosis |
OMIM:109050 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Coxa valga, Flexion contracture, Short metatarsal, Cubitus valgus |
OMIM:248800 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral... |
OMIM:616723 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... |
ORPHA:56304 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Abnormality of the hand, Brachydactyly |
ORPHA:1264 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... |
OMIM:614813 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... |
OMIM:614326 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ... |
ORPHA:166024 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho... |
OMIM:617405 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ... |
OMIM:222600 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu... |
ORPHA:337 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab... |
ORPHA:324442 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612462 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Brachydactyly |
OMIM:165800 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalang... |
OMIM:190350 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly |
ORPHA:2762 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... |
OMIM:618853 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Shor... |
OMIM:216550 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density |
ORPHA:2611 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Generalized morning stiffness, Coxa vara, Arthritis, Congenital finge... |
OMIM:208250 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal,... |
OMIM:170390 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads |
OMIM:271600 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... |
ORPHA:3121 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ... |
OMIM:616651 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... |
ORPHA:1837 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Brachydactyly |
ORPHA:168796 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Ab... |
ORPHA:281 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease... |
OMIM:615777 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, 2-3 toe syndactyly, Increas... |
OMIM:261990 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
ORPHA:217017 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Small hand |
OMIM:300261 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Osteoporosis, Short f... |
ORPHA:3409 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod... |
OMIM:184250 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Flexion contracture, Coxa vara... |
OMIM:617396 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot, Micrognathia |
OMIM:183700 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... |
OMIM:607323 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Grange Syndrome |
|
Syndactyly, Increased susceptibility to fractures, Short palm |
ORPHA:79094 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th ... |
ORPHA:1777 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia of the radius, B... |
ORPHA:96097 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... |
OMIM:600920 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flexion contracture, Flared metaphysis, P... |
OMIM:215150 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Brachydactyly |
OMIM:619692 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnorma... |
ORPHA:1824 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyporeflexia of lo... |
OMIM:615632 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Joint hyperflexibility, Abnormal pelvic girdle bone... |
ORPHA:1458 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm... |
OMIM:263750 |
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 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma... |
ORPHA:64754 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Abnormal pelvic girdle bone morp... |
OMIM:157900 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Short 4th metacarpal, Short clavicles, Joint laxity |
OMIM:606220 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho... |
OMIM:143095 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Cubitus valgus, Short 4th metacarpal |
ORPHA:2183 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Met... |
OMIM:123450 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Joint stiffness, Talipes, Aplasia/Hypoplasia of the patella |
ORPHA:1149 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ... |
ORPHA:86822 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... |
OMIM:618569 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... |
ORPHA:444002 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Martsolf Syndrome 1 |
|
Joint laxity, Pes planus, Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Shor... |
OMIM:212720 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Tracheomalacia, Small hand, S... |
ORPHA:1001 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short metatarsal, Short... |
ORPHA:79444 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly |
ORPHA:921 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxatio... |
OMIM:619180 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Distal Deletion 10Q |
|
Pes planus, Scapular winging, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tape... |
ORPHA:96148 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas... |
ORPHA:11 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P... |
OMIM:211750 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... |
OMIM:612813 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen... |
OMIM:244600 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Micrognathia, Abnormal foot morphology, Cutane... |
OMIM:601390 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Auriculoosteodysplasia |
|
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... |
ORPHA:114 |
Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod... |
OMIM:300590 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes eq... |
OMIM:150250 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Squared iliac bones, Hypoplastic ... |
ORPHA:2746 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Amelia |
OMIM:601163 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplantar keratod... |
ORPHA:2824 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clin... |
OMIM:619451 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... |
OMIM:600325 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Weill-Marchesani Syndrome |
|
Short thumb, Limitation of joint mobility, Brachydactyly |
ORPHA:3449 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Microduplication Xp11.22P11.23 Syndrome |
|
Pes planus, Toe syndactyly, Pes cavus |
ORPHA:217377 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow ... |
OMIM:607095 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Pes cavus, Short 4th metacarpal, Short... |
OMIM:169400 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em... |
OMIM:613390 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Bilateral camptodactyly, Prominent fingertip pads, Hip ... |
OMIM:619557 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... |
OMIM:610954 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Joint stiffness, Joint hype... |
ORPHA:3447 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal |
ORPHA:66518 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Broad 1st metacarpal, S... |
ORPHA:79443 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Micrognathia, Cut... |
OMIM:615546 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... |
ORPHA:392 |
Larsen Syndrome |
|
Finger syndactyly, Craniosynostosis, Accessory carpal bones, Joint hyperflexibility, Abnormal epi... |
ORPHA:503 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul... |
OMIM:226960 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture |
OMIM:619091 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Broad palm, Elbow flexion ... |
OMIM:608328 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... |
OMIM:618143 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... |
OMIM:231050 |
Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Brachydactyly |
OMIM:614819 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short foot, Ankle ... |
OMIM:275900 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Osteoporosis, Brachydactyly |
OMIM:234250 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Nance-Horan Syndrome |
|
Short metacarpal |
ORPHA:627 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Arthrogrypos... |
OMIM:618265 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Brachydactyly |
ORPHA:2145 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Camptodactyly |
OMIM:619751 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl... |
OMIM:250410 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossification, Short cla... |
OMIM:614592 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Osteoporosis, Ankle clonus, Lambdoidal craniosynostosis |
OMIM:615398 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility |
OMIM:615225 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Pes cavus |
OMIM:266500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Genu valgum, Abnormal metacarpal morphology, Short distal phalanx... |
ORPHA:1295 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly |
OMIM:266265 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Short middle phalanx of the 5th finger, Flexion contracture, Cutaneous finger syndactyly, Hip dis... |
OMIM:203550 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal epiphysis morpholo... |
ORPHA:3051 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific... |
ORPHA:353298 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, Hy... |
ORPHA:245 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
Alopecia-Intellectual Disability Syndrome |
|
Split hand, Flexion contracture, Brachydactyly |
ORPHA:2850 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrod... |
ORPHA:166035 |
Rudiger Syndrome |
|
Short digit, High axial triradius, Flexion contracture, Single transverse palmar crease |
OMIM:268650 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand |
ORPHA:177910 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Limitation of join... |
ORPHA:2994 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Advanced ossification o... |
OMIM:618363 |
Marinesco-Sjögren Syndrome |
|
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... |
ORPHA:559 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Scoliosis, Abnormality... |
ORPHA:1825 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Failure to thrive, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Refsum Disease |
|
Short metacarpal, Abnormal foot morphology, Hammertoe, Abnormal epiphysis morphology, Pes cavus |
ORPHA:773 |
Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Brachydactyly |
OMIM:616459 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Flexion contracture, Small hand, Narrow palm, Short foot, Cam... |
OMIM:615547 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contracture, Broad palm, Coxa v... |
OMIM:300232 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Adducted thumb, U... |
ORPHA:1147 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte... |
ORPHA:163654 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital... |
ORPHA:93360 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Small for gestational age, Ac... |
ORPHA:404454 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Osteopenia, Sandal gap, Short toe, Clinodactyly of the 5th finger, Short 5th me... |
OMIM:617877 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morpho... |
ORPHA:137834 |
Laron Syndrome |
|
Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydactyly |
ORPHA:633 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Single transverse palmar crease, Adducted thumb |
OMIM:620062 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
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 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Short thumb, Dislocated radial head, Brachy... |
ORPHA:401935 |
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 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh... |
OMIM:614524 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... |
OMIM:175700 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Joint laxity, Scapular winging, Pes planus, Single transverse palmar crease, M... |
OMIM:618870 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
Osteoglosphonic Dysplasia |
|
Rhizomelia, Craniosynostosis, Micrognathia, Abnormal bone ossification, Brachydactyly |
ORPHA:2645 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Talipes equinovarus |
OMIM:618845 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Rhizomelia, Craniosynostosis, Micrognathia, Phalangeal cone-shaped epiphyses, Postaxi... |
OMIM:266920 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P... |
ORPHA:192 |
Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... |
ORPHA:93328 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi... |
OMIM:136760 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... |
OMIM:236500 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Pes valgus, Br... |
OMIM:614376 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Chitayat Syndrome |
|
Hallux valgus, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... |
ORPHA:3138 |
Kid Syndrome |
|
Keratitis, Corneal erosion, Knee flexion contracture, Arthritis, Keratoconjunctivitis sicca, Conj... |
ORPHA:477 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... |
OMIM:601680 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb |
ORPHA:1794 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu... |
OMIM:278730 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single... |
OMIM:210600 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... |
OMIM:609128 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Small hand, Short 4th metacarpal |
ORPHA:1787 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Clinodactyly |
ORPHA:1445 |
Alagille Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger |
ORPHA:52 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb |
OMIM:617784 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... |
OMIM:218600 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... |
OMIM:201000 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M... |
ORPHA:570 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... |
ORPHA:2655 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, ... |
ORPHA:313855 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth |
OMIM:613124 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
Hall-Riggs Syndrome |
|
Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology,... |
ORPHA:2107 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Sandal gap, Small hand, Short foot, Pes cavus, Brachydactyly |
OMIM:300354 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness |
OMIM:615284 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to... |
ORPHA:1327 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Clinodactyly, Short neck |
ORPHA:251046 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd... |
OMIM:601358 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion con... |
OMIM:618162 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Osteopenia, Proximal placement of thumb, Talipes equi... |
OMIM:615789 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Short metacarpal, Deep palmar crease, Osteoporosis |
OMIM:617190 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, Camptodactyly of finger, Brachydactyly |
ORPHA:2863 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Brachydactyly |
ORPHA:776 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,... |
ORPHA:95699 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
Mohr Syndrome |
|
Syndactyly, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysi... |
OMIM:252100 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93259 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Orofaciodigital Syndrome Xvii |
|
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... |
OMIM:617926 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Erythrokeratodermia Variabilis |
|
Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger |
ORPHA:317 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... |
ORPHA:915 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ... |
OMIM:305400 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Broad foot, Brachydactyly |
ORPHA:3085 |
Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Broad fingertip, Short metatarsal, S... |
ORPHA:2896 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Polydactyly |
OMIM:602501 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... |
ORPHA:93352 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi... |
ORPHA:221016 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... |
OMIM:206920 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Gracile Bone Dysplasia |
|
Slender long bone, Decreased skull ossification, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Tapered finger, Abnormal thumb... |
ORPHA:1452 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Joint hypermobility, Bra... |
ORPHA:3306 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho... |
ORPHA:370930 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Woolly Hair Nevus |
|
Brachydactyly |
ORPHA:79414 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:613604 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Trichorhinophalangeal Syndrome Type 2 |
|
Bilateral single transverse palmar creases, Talipes, Avascular necrosis of the capital femoral ep... |
ORPHA:502 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Absent palmar crease |
OMIM:614230 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic... |
OMIM:618175 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph... |
ORPHA:221008 |
Focal Dermal Hypoplasia |
|
Joint laxity, Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polyda... |
OMIM:305600 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr... |
OMIM:616145 |
Specific Granule Deficiency 2 |
|
Osteopenia, Sandal gap, Brachydactyly |
OMIM:617475 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Abnormality of the elbow, Hip dislocation, Short middle phala... |
ORPHA:1005 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... |
OMIM:107480 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,... |
ORPHA:93274 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa... |
OMIM:271510 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the... |
ORPHA:1234 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Pes cavus, Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Abnormal ... |
ORPHA:3219 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln... |
ORPHA:84 |
Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Elbow contracture |
OMIM:616489 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... |
ORPHA:2176 |
Endove Syndrome, Limb-Brain Type |
|
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Talar a... |
OMIM:619218 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Short palm, Tracheobron... |
OMIM:619184 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Bicoronal synostosis, Brachydactyly |
OMIM:604757 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Abnorma... |
ORPHA:1323 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly |
ORPHA:3004 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility |
ORPHA:2475 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th... |
ORPHA:1305 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Sm... |
ORPHA:94065 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly |
OMIM:218340 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th... |
OMIM:618914 |
Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme... |
ORPHA:221120 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
OMIM:616354 |
Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Brachydactyly, Joint laxity, Overlapping toe, Rocker bottom f... |
ORPHA:488642 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... |
ORPHA:85438 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Pes planus, Congenital hip dislocation, Joint hypermobility, Tapered finger, Microgna... |
OMIM:616007 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... |
OMIM:613320 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus |
ORPHA:3224 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Fanconi Anemia, Complementation Group P |
|
Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb |
OMIM:613951 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... |
OMIM:620076 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossification, Calvarial os... |
OMIM:244460 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino... |
OMIM:180860 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Brachydactyly |
ORPHA:377 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal |
OMIM:609053 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Short neck, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... |
ORPHA:3015 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ... |
ORPHA:264200 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93260 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly |
OMIM:272440 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... |
OMIM:268300 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Brachydactyly |
ORPHA:436245 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla... |
OMIM:311900 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ... |
ORPHA:1786 |
Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Wide anterior fontanel, Paten... |
OMIM:300963 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... |
OMIM:164745 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac... |
ORPHA:1865 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Wide anterior fontanel, Hand polydactyly, Broad thumb |
OMIM:239710 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Talipes equinova... |
OMIM:614815 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly |
OMIM:618381 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Hypoplastic iliac wing, G... |
ORPHA:763 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,... |
ORPHA:974 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa... |
OMIM:614099 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... |
OMIM:614701 |
Coffin-Siris Syndrome 6 |
|
Clinodactyly, Micrognathia, Brachydactyly |
OMIM:617808 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Large hands, Broad thumb, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:1770 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Tonne-Kalscheuer Syndrome |
|
Pes planus, Micrognathia, Broad thumb, Brachydactyly |
OMIM:300978 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg... |
ORPHA:96201 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab... |
ORPHA:2167 |
Rin2 Syndrome |
|
Pes planus, Increased susceptibility to fractures, Joint hypermobility, Brachydactyly |
ORPHA:217335 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Peters-Plus Syndrome |
|
Joint laxity, Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited ... |
OMIM:261540 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Posterior embryotoxon, Cataract, Retinal arteriolar tortuosity, Opti... |
ORPHA:567 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag... |
OMIM:175780 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha... |
OMIM:616331 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Flexion contracture, Short long ... |
OMIM:263210 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Limitation of joint mobility, Clinodactyly of the 5th fing... |
ORPHA:3255 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
Smith-Magenis Syndrome |
|
Pes planus, Broad palm, Short palm, Abnormal forearm morphology, Brachydactyly |
OMIM:182290 |
Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:1563 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femo... |
ORPHA:93315 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Pa... |
ORPHA:2916 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Brachydactyly |
ORPHA:1133 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r... |
ORPHA:2021 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases |
ORPHA:2083 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
Coffin-Siris Syndrome 2 |
|
Brachydactyly, Sandal gap, Short distal phalanx of finger |
OMIM:614607 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h... |
OMIM:161700 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus, Postaxial foot polyd... |
OMIM:615996 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Tracheomalacia, Clinodactyly, ... |
OMIM:217980 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of ha... |
OMIM:109400 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly |
OMIM:617157 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Ulnar deviation of finger, Genu valgu... |
ORPHA:949 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm |
ORPHA:73246 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Brachydactyly |
ORPHA:2180 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Bone cyst, Deep palmar crease, Brachydactyly |
ORPHA:1752 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Brachydactyly |
OMIM:247410 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... |
ORPHA:397590 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Flexion contracture, Short foot, Talipes calcaneovarus, Large hands, Talipes equino... |
OMIM:300534 |
Microcephaly-Capillary Malformation Syndrome |
|
Clinodactyly, Brachydactyly, Short distal phalanx of finger |
OMIM:614261 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Micrognathia, Hyperextensibility of the knee, Osteoporosis, P... |
OMIM:601812 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Deep plantar cre... |
ORPHA:1517 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Micrognathia, Short metatarsal, Cubitus valgus, Short 4th metacarpal, Muscle hyper... |
ORPHA:1772 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
Kbg Syndrome |
|
Vertebral fusion, Single transverse palmar crease, Short neck, Cutaneous syndactyly, Finger clino... |
ORPHA:2332 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad palm, Broad phalanges of the hand, Broad metacarpals, Br... |
OMIM:277600 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint hyperflexibility, Hand polydactyly, Foot polydactyly |
ORPHA:60040 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tap... |
OMIM:619841 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, Abnormal epiphysis morphology,... |
ORPHA:2637 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Joint hyperflexibility |
ORPHA:1252 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, 2-3 finger syndactyly... |
ORPHA:2437 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... |
ORPHA:2920 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ... |
OMIM:617061 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Ab... |
ORPHA:85408 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po... |
OMIM:614175 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly |
OMIM:618027 |
Orthostatic Hypotension 1 |
|
Joint hypermobility, Brachydactyly |
OMIM:223360 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Pes valgus, Brachydactyly |
OMIM:619995 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Scoliosis, Vertebral segmentation defect |
ORPHA:531151 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Limitation of joint mob... |
ORPHA:178303 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Scoliosis, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly |
OMIM:620237 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Talipes equinovaru... |
OMIM:617822 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
Fanconi Anemia, Complementation Group F |
|
Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Absent thumb |
OMIM:603467 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Short neck |
OMIM:613885 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat... |
ORPHA:397715 |
Chand Syndrome |
|
Short fifth metatarsal |
ORPHA:1401 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus |
OMIM:224410 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Sho... |
OMIM:269860 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Micrognathia, Brachydactyly |
OMIM:620156 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,... |
ORPHA:1292 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Micrognathia, Camptodactyly |
OMIM:619123 |
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 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Osteopenia, Down-sloping shoulders, Recurrent fractures, Tapered finger, Mi... |
OMIM:611174 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi... |
OMIM:101200 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Single transverse palmar crease, Micrognathia, Squared iliac bones, Small... |
OMIM:611209 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly... |
OMIM:200110 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre... |
ORPHA:2363 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Joint hyperflexibility, Clin... |
ORPHA:1974 |
Short Syndrome |
|
Joint hyperflexibility, Brachydactyly, Short palm |
ORPHA:3163 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Smith-Magenis Syndrome |
|
Pes planus, Toe syndactyly, Micrognathia, Joint stiffness, Hand polydactyly, Clinodactyly of the ... |
ORPHA:819 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Abnormal foot morphology, Arthrogryposis-like hand anomaly, ... |
ORPHA:369891 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... |
ORPHA:2754 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finge... |
OMIM:304110 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Hemivertebrae, Scoliosis, Cubit... |
OMIM:104350 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Cinca Syndrome |
|
Reduced bone mineral density, Brachydactyly |
ORPHA:1451 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Microretrognathia, Toe syndactyly, Arachnodactyly, Single transverse palmar ... |
ORPHA:1692 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Short... |
ORPHA:1708 |
Alg8-Cdg |
|
Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Monosomy 18P |
|
Micrognathia, Brachydactyly |
ORPHA:1598 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Müllerian Aplasia And Hyperandrogenism |
|
Cubitus valgus, Brachydactyly |
ORPHA:247768 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Overlapping finge... |
OMIM:617022 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Short distal phalanx of finger, Generalize... |
ORPHA:2959 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndact... |
OMIM:601707 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Craniosynostosis, Deep plantar creases, Deep palmar cr... |
ORPHA:254346 |
Craniofacioskeletal Syndrome |
|
Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinod... |
OMIM:300712 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Patent ductus arteriosus, Preaxial polydactyly, Bilateral... |
OMIM:618142 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
Kleefstra Syndrome 1 |
|
Talipes equinovarus, Tracheobronchomalacia, Single transverse palmar crease, Brachydactyly |
OMIM:610253 |
Macs Syndrome |
|
Joint laxity, Pes planus, Single transverse palmar crease, Micrognathia, Osteoporosis, Joint hype... |
OMIM:613075 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hip dysplasia, Scoliosis, Deviation of the 5th finger |
OMIM:616362 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Osteoporosis |
ORPHA:2169 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal epiphysis morphology, Short p... |
ORPHA:2588 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
ORPHA:397709 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm, Joint hypermobility |
OMIM:618505 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Multiple joint contractures, Arachnodactyly, Rocker bottom foot, Down-sloping shoulde... |
OMIM:265000 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... |
OMIM:303600 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Preaxial hand polydactyly, Abn... |
ORPHA:261318 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Craniosynostosis, Brachydactyly |
ORPHA:457193 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... |
OMIM:227330 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi... |
ORPHA:2886 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Micrognathia, Brachydactyly |
ORPHA:2075 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Short distal phalanx of finger |
OMIM:118450 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Drumstick terminal phalanges |
OMIM:612938 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Missing ribs, Micrognathia |
OMIM:220210 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Palmoplantar keratoderma, Short ... |
ORPHA:2908 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619680 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
3C Syndrome |
|
Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Br... |
ORPHA:7 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive, Flexion contracture |
OMIM:618201 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finger syndactyly, ... |
OMIM:257850 |
Frontorhiny |
|
Finger clinodactyly, Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly |
ORPHA:391474 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... |
OMIM:618188 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi... |
OMIM:122470 |
Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty... |
ORPHA:158687 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb |
ORPHA:1439 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb |
ORPHA:139471 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Microg... |
ORPHA:235 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Micrognathia, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal ... |
ORPHA:314679 |
Kabuki Syndrome 2 |
|
Joint laxity, Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachyda... |
OMIM:300867 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Patent ductus arteriosus, Cutaneous syndactyly, Scoliosi... |
OMIM:618316 |
Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Clinodactyly of the 5th fin... |
ORPHA:870 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... |
ORPHA:2750 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova... |
ORPHA:1358 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:620107 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ... |
OMIM:302960 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Joint stiffness, Short toe, Limitation of joint mobility, 2-3 ... |
OMIM:139210 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand |
ORPHA:1300 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ... |
OMIM:616894 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Cortical irregularity, Micrognathia, Metatarsus adductus, F... |
OMIM:249420 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly |
OMIM:608624 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Narrow palm, Slender... |
ORPHA:193 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Acromicria, Small hand, Narrow palm, Osteoporosis, Genu valgum, Short foo... |
OMIM:176270 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip... |
ORPHA:2044 |
Radio-Tartaglia Syndrome |
|
Pes planus, Micrognathia, Tapered finger, Pes cavus, Brachydactyly |
OMIM:619312 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... |
OMIM:214800 |
Raine Syndrome |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa... |
OMIM:150230 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:601353 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb |
OMIM:314390 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ... |
ORPHA:217346 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Vertebral arch anomaly... |
OMIM:148050 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine... |
ORPHA:1556 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Recurr... |
ORPHA:955 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd... |
ORPHA:1521 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius |
ORPHA:140952 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger... |
OMIM:618050 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Small... |
OMIM:180700 |
Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... |
OMIM:151050 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly |
OMIM:614520 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous... |
OMIM:620029 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis |
OMIM:217100 |
Triploidy |
|
Finger syndactyly, Decreased skull ossification, Micrognathia |
ORPHA:3376 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Short neck, Scoliosis |
OMIM:616038 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Micrognathia, Short thumb, Cuta... |
OMIM:619148 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, F... |
OMIM:252500 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Pes planus, Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Pes planus, Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Pes planus, Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Pes planus, Hypermobility of toe joints, Micrognathia, Short toe, Enlargement of the ... |
ORPHA:881 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Micrognat... |
OMIM:305450 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Short neck |
ORPHA:110 |
Meester-Loeys Syndrome |
|
Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Joint contracture, Joi... |
OMIM:300989 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Adnp Syndrome |
|
Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology,... |
ORPHA:404448 |
Down Syndrome |
|
Joint laxity, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Sh... |
OMIM:190685 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Absent ... |
ORPHA:284160 |
White-Sutton Syndrome |
|
Joint laxity, Micrognathia, Hypoplastic cervical vertebrae, Broad foot, Broad thumb, Brachydactyly |
OMIM:616364 |
Pallister-Hall Syndrome |
|
Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi... |
ORPHA:672 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... |
OMIM:192350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly |
OMIM:603387 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... |
ORPHA:568 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Lowe... |
ORPHA:2092 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Progressive flexion contrac... |
ORPHA:93932 |
Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Join... |
OMIM:617062 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Hypertension, Recurrent corneal erosions, Opacification of the corneal stroma, Corneal... |
OMIM:308205 |
Timothy Syndrome |
|
Cutaneous syndactyly |
OMIM:601005 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... |
ORPHA:464738 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Micrognathia, Lower limb asymmetry, Clinodactyly of... |
ORPHA:96182 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Prader-Willi Syndrome Due To Translocation |
|
Pes planus, Overlapping toe, Micrognathia, Small hand, Short foot, Bilateral talipes equinovarus,... |
ORPHA:177907 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia |
ORPHA:3412 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Flattened femoral head, Acetabu... |
ORPHA:79255 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge... |
OMIM:200990 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... |
OMIM:619727 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly |
OMIM:616430 |
Maternal Phenylketonuria |
|
Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb |
ORPHA:2209 |
Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3339 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Joint stiffness, Flexion contracture, Talipes equinovarus, Clinodactyly of the 5th finger, Brachy... |
ORPHA:847 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p... |
OMIM:614976 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br... |
ORPHA:364577 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Flexion contracture, Small hand,... |
OMIM:309590 |
Fraser Syndrome 3 |
|
Short toe, Micrognathia, Cutaneous syndactyly |
OMIM:617667 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture... |
OMIM:619777 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Micrognat... |
ORPHA:97360 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypop... |
OMIM:617063 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Palmoplantar hyperkeratosis, Bilateral single tr... |
ORPHA:3253 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered finger, Small hand,... |
ORPHA:280633 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Rhizomelia, 2-3 toe syndactyly, Recurrent patellar dislocation, 3-4 finger syndactyly |
OMIM:615877 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Prominent fingertip pads, Br... |
ORPHA:466950 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervic... |
OMIM:157800 |
Leukodystrophy, Hypomyelinating, 13 |
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Joint contracture, Exaggerated startle response, Failure to thrive |
OMIM:616881 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Mgat2-Cdg |
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Osteopenia, Brachydactyly |
ORPHA:79329 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cerv... |
ORPHA:444077 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Syndactyly |
OMIM:224120 |
Orofaciodigital Syndrome I |
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Microretrognathia, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodacty... |
OMIM:311200 |
Noonan Syndrome |
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Micrognathia, Joint hyperflexibility, Radioulnar synostosis, Clinodactyly of the 5th finger, Brac... |
ORPHA:648 |
Ayme-Gripp Syndrome |
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Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger |
OMIM:601088 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact... |
ORPHA:818 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla... |
ORPHA:306542 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly,... |
OMIM:613610 |
Mckusick-Kaufman Syndrome |
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Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... |
OMIM:236700 |
Monosomy 22 |
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Finger syndactyly, Single transverse palmar crease, Clubbing, Contractures of the large joints, C... |
ORPHA:96123 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger |
ORPHA:477993 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly,... |
OMIM:610168 |
Jacobsen Syndrome |
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Micrognathia, Missing ribs, Flexion contracture, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:147791 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Long foot, Broad 2nd toe, Palmoplantar hyperkeratosis, Large hands, Bilateral talipes equinovarus... |
OMIM:280000 |
Mend Syndrome |
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Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
Orofaciodigital Syndrome V |
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Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Scoliosis |
OMIM:174300 |
Arboleda-Tham Syndrome |
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Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ... |
OMIM:616268 |
Genitopatellar Syndrome |
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Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus... |
OMIM:606170 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Brachydactyly |
ORPHA:466943 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Joint hyperflexibility, ... |
ORPHA:2907 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Brachydactyly |
ORPHA:168577 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx, Broad thumb |
ORPHA:2211 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal foot morphology, Limitation of... |
ORPHA:2990 |
Specc1L-Related Hypertelorism Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly |
ORPHA:1519 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Joint laxity, Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallu... |
OMIM:612474 |
Rapp-Hodgkin Syndrome |
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Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
3Mc Syndrome 3 |
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Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Sacral dimple |
OMIM:248340 |
Pgm3-Cdg |
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Decreased/absent ankle reflexes, Osteomyelitis, Brachydactyly |
ORPHA:443811 |
Incontinentia Pigmenti |
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Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Osteolysis, De... |
ORPHA:464 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Joint contracture, Exaggerated startle response, Failure to thrive |
OMIM:617864 |
Limb-Mammary Syndrome |
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Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Simpson-Golabi-Behmel Syndrome |
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Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Cog1-Cdg |
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Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Flat acetabular roof, Short long bone, Talipes ... |
ORPHA:263508 |
Kinsship Syndrome |
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Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Hip dislocation, Fibular ... |
OMIM:619297 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hallux valgus, Toe syndactyly, Arachnodactyly, Kyphosis, Patent ductus arteriosus, Polydactyly, S... |
ORPHA:464306 |
Rubinstein-Taybi Syndrome 1 |
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Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Flex... |
OMIM:180849 |
Faciocardiomelic Syndrome |
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Slender long bone, Cuboid-shaped vertebral bodies, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Eec Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
Toriello-Carey Syndrome |
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Clinodactyly, Micrognathia, Brachydactyly |
ORPHA:3338 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... |
OMIM:617301 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino... |
OMIM:620025 |
Miller-Dieker Lissencephaly Syndrome |
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Sacral dimple, Single transverse palmar crease, Deep palmar crease, Polydactyly, Camptodactyly, C... |
OMIM:247200 |
Bloom Syndrome |
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Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly |
OMIM:210900 |
Hartsfield Syndrome |
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Syndactyly, Ectrodactyly, Craniosynostosis |
OMIM:615465 |
Witteveen-Kolk Syndrome |
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Microretrognathia, Joint laxity, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placem... |
OMIM:613406 |
Senior-Loken Syndrome 8 |
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Polydactyly |
OMIM:616307 |
Barber-Say Syndrome |
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Clinodactyly of the 5th finger, Micrognathia, Talipes equinovarus, Brachydactyly |
OMIM:209885 |
Meckel Syndrome, Type 1 |
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Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Micrognathi... |
OMIM:249000 |
Jacobsen Syndrome |
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Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Missing ribs, Short... |
ORPHA:2308 |
Bardet-Biedl Syndrome 20 |
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Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Retinitis Pigmentosa 74 |
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Polydactyly |
OMIM:616562 |
Choanal Atresia |
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Polydactyly |
ORPHA:137914 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... |
OMIM:211380 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca... |
OMIM:256520 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Monosomy 9Q22.3 |
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Short neck, Palmar pits, Kyphosis, Abnormality of the vertebral column, Polydactyly |
ORPHA:77301 |
Adams-Oliver Syndrome 1 |
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Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Holoprosencephaly |
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Joint hyperflexibility, Hand polydactyly, Talipes, Brachydactyly |
ORPHA:2162 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly |
OMIM:616546 |
Dubowitz Syndrome |
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Syndactyly, Pes planus, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th fi... |
OMIM:223370 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Short foot, Hip... |
ORPHA:1606 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Joubert Syndrome 39 |
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Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Micrognathia |
ORPHA:1071 |
Cowden Syndrome |
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Palmoplantar keratoderma, Bone cyst, Brachydactyly |
ORPHA:201 |
Plaa-Associated Neurodevelopmental Disorder |
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Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia |
ORPHA:521426 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Broad hallux, Postaxial polydactyly, Hip dysplasia, Scoliosis, Clinodactyly of the 5th finger |
ORPHA:457284 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Polydactyly |
ORPHA:314655 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Pes planus, Tapered finger, Micrognathia, Talipes calcaneovalgus, Genu valgum, Talipes equinovaru... |
OMIM:309580 |
Noonan Syndrome 1 |
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Micrognathia, Synovitis, Radial deviation of finger, Cubitus valgus, Clinodactyly, Brachydactyly |
OMIM:163950 |
Degcags Syndrome |
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Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Micrognathia, Short thumb, Preaxial han... |
OMIM:619488 |
Congenital Sialidosis Type 2 |
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Polydactyly |
ORPHA:93400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Lumbar hyperlordosis, Patent ductus arteriosus, Hip dysplasia, Scoliosis, Clinodactyl... |
OMIM:616975 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Helsmoortel-Van Der Aa Syndrome |
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Broad hallux, Sandal gap, Tapered finger, Hyperlordosis, Small hand, Genu valgum, Polydactyly, Cl... |
OMIM:615873 |
Neurocardiofaciodigital Syndrome |
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Syndactyly, Polydactyly |
OMIM:619869 |
Charge Syndrome |
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Talipes, Abnormal tibia morphology, Bifid femur, Abnormality of bone mineral density, Clinodactyl... |
ORPHA:138 |
Chromosome 1P36 Deletion Syndrome, Distal |
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11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Short foot, Hip dysplasia, Short ... |
OMIM:607872 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Contractures of the large joints, Exaggerated startle response, Failure to thrive |
OMIM:617527 |
Scalp-Ear-Nipple Syndrome |
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Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th f... |
OMIM:181270 |
Doors Syndrome |
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11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, ... |
ORPHA:79500 |
Proteus Syndrome |
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Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Joint stiffn... |
ORPHA:744 |
Fraser Syndrome 2 |
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Cutaneous syndactyly |
OMIM:617666 |
Peters Plus Syndrome |
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Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ... |
ORPHA:709 |
Hennekam Syndrome |
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Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal foot morphology |
ORPHA:2136 |
Genitourinary And/Or Brain Malformation Syndrome |
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Syndactyly, Joint stiffness, Micrognathia |
OMIM:618820 |
Culler-Jones Syndrome |
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Postaxial polydactyly |
OMIM:615849 |
Tay-Sachs Disease |
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Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Joint laxity, Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Joint laxity, Syndactyly, Broad hallux, Deviation of the hallux, Micrognathia, Avascular necrosis... |
ORPHA:353277 |
Legius Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Scoliosis |
ORPHA:137605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Flexion contracture |
OMIM:253800 |
Coffin-Siris Syndrome 12 |
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Joint laxity, Micrognathia, Short thumb, Slender finger, Cutaneous syndactyly, Radioulnar synosto... |
OMIM:619325 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4... |
ORPHA:268261 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Fontaine Progeroid Syndrome |
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Syndactyly, Craniosynostosis, Micrognathia, Deep palmar crease, Absent distal phalanges, Coronal ... |
OMIM:612289 |
Mullegama-Klein-Martinez Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Scoliosis |
OMIM:301022 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short humerus, Patent ductus arteriosus, Short femur, Polydactyly |
ORPHA:17 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Brachydactyly |
ORPHA:293987 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Joint laxity, Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly |
OMIM:620330 |
Rabson-Mendenhall Syndrome |
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Polydactyly |
ORPHA:769 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology, Decreased cervical spine mobility |
ORPHA:95494 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicles, Radial devi... |
OMIM:309800 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Syndactyly, Postaxial polydactyly, Broad first metatarsal, Knee dislocation, Polydact... |
OMIM:619534 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... |
ORPHA:261537 |
Fraser Syndrome |
|
Finger syndactyly, Toe syndactyly, Wide pubic symphysis |
ORPHA:2052 |
Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Recurrent fractur... |
ORPHA:2152 |
Okamoto Syndrome |
|
Hip dysplasia, Polydactyly, Scoliosis |
ORPHA:2729 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... |
ORPHA:261552 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Exaggerated startle response, Osteoporosis, Dystonia, Uterine prolapse |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |