Syndactyly Type 1 |
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Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Digital Clubbing, Isolated Congenital |
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Clubbing |
OMIM:119900 |
Polycystic Kidney Disease 5 |
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Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Syndactyly, Type Iii |
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Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Postaxial Tetramelic Oligodactyly |
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Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
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Abnormality of finger |
OMIM:187390 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Brachydactyly-Syndactyly Syndrome |
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Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Congenital Radioulnar Synostosis |
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Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... |
ORPHA:3269 |
Tetramelic Monodactyly |
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Split hand, Oligodactyly |
ORPHA:2564 |
Syndactyly, Type V |
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Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Syndactyly Type 5 |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Hallux Varus And Preaxial Polysyndactyly |
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Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Acrorenal Syndrome |
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Abnormal renal morphology, Hand oligodactyly |
OMIM:102520 |
Symphalangism, Proximal, 1B |
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Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion creases, Pes planus, Pr... |
OMIM:615298 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Tarsal-Carpal Coalition Syndrome |
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Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Polydactyly, Preaxial Ii |
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Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Ureter, Cancer Of |
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Neoplasm of the ureter |
OMIM:191600 |
Osebold-Remondini Syndrome |
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Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Synpolydactyly 2 |
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Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Brachydactyly Type B |
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Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Proximal Symphalangism |
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Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
Polydactyly, Postaxial, Type A5 |
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Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Syndactyly Type 4 |
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Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Syndactyly Type 3 |
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Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Mesomelic Dysplasia, Savarirayan Type |
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Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Metaphyseal Anadysplasia |
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Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Arthrogryposis, Distal, Type 11 |
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Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... |
OMIM:620019 |
Split-Hand/Foot Malformation 6 |
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Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Fibular Aplasia-Ectrodactyly Syndrome |
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Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Synpolydactyly 1 |
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Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Brachydactyly, Type B2 |
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Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
Distal Symphalangism |
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Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... |
ORPHA:3248 |
Multiple Synostoses Syndrome 3 |
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Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
Brachydactyly Type B2 |
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Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Liebenberg Syndrome |
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Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
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Short toe, Syndactyly |
OMIM:614341 |
Banki Syndrome |
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Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... |
ORPHA:1228 |
Syndactyly Type 2 |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Talonavicular Coalition |
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Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... |
OMIM:186750 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
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Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Acheiropodia |
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Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Mesomelic Dysplasia, Kantaputra Type |
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Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... |
ORPHA:1836 |
Dysplasia Epiphysealis Hemimelica |
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Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... |
ORPHA:1822 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Joint stiffness, Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the an... |
ORPHA:968 |
Mesomelic Dysplasia, Savarirayan Type |
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Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Ring Chromosome 4 Syndrome |
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Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Synostoses, Tarsal, Carpal, And Digital |
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Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... |
OMIM:186400 |
Multiple Synostoses Syndrome 2 |
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Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
Brachydactyly, Mononen Type |
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Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... |
OMIM:301940 |
Syndactyly, Type Iv |
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2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Acromesomelic Dysplasia, Grebe Type |
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Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Acropectorovertebral Dysplasia |
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Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... |
OMIM:102510 |
Santos Syndrome |
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Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Acromesomelic Dysplasia 2B |
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Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Radial Hemimelia |
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Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Acheiropody |
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Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Symphalangism, Proximal, 1A |
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Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the toes, Proximal symphalangism... |
OMIM:185800 |
Ulnar Hemimelia |
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Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Fatco Syndrome |
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Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Nievergelt Syndrome |
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Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Polydactyly, Postaxial, Type A1 |
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Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Acrocephalopolysyndactyly Type Iv |
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Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Digitotalar Dysmorphism |
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Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger |
OMIM:126050 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Jackson-Weiss Syndrome |
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2-3 toe syndactyly, Craniosynostosis, Broad hallux, Hallux varus, Broad metatarsal, Short metatar... |
OMIM:123150 |
Acropectorovertebral Dysplasia |
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Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
Mesomelic Dysplasia, Nievergelt Type |
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Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Mesomelic Dysplasia, Kantaputra Type |
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Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Acromesomelic Dysplasia 2C |
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Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Blount Disease, Infantile |
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Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Brachydactyly, Type A1 |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Langer Mesomelic Dysplasia |
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Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
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Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Vertical Talus, Congenital |
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Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot |
OMIM:192950 |
Tetramelic Monodactyly |
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Split hand, Hand monodactyly, Foot monodactyly, Split foot |
OMIM:187510 |
Craniosynostosis With Fibular Aplasia |
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Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
Brachydactyly Type A7 |
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Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Langer Mesomelic Dysplasia |
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Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
Thiemann Disease |
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Avascular necrosis, Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... |
ORPHA:1570 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankles, Tarsal synostosis |
ORPHA:1412 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... |
OMIM:185900 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Gollop-Wolfgang Complex |
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Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, ... |
ORPHA:93351 |
Congenital Vertical Talus |
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Equinus calcaneus, Abnormality of the foot musculature, Pes planus, Pes valgus, Rocker bottom foo... |
ORPHA:178382 |
Wahab Syndrome |
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Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... |
OMIM:615170 |
Humeroradial Synostosis |
|
Humeroradial synostosis |
OMIM:143050 |
Brachydactyly, Type A1, D |
|
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... |
OMIM:616849 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Wide capital femoral epiphyses, Pes planu... |
OMIM:147891 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Fibula, Recurrent Dislocation Of Head Of |
|
Abnormality of fibula morphology |
OMIM:135800 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphol... |
ORPHA:971 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar sy... |
ORPHA:3266 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Bro... |
OMIM:271650 |
Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... |
ORPHA:1972 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Oligodactyly, Craniosynostosis |
OMIM:614416 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis |
OMIM:309630 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot |
OMIM:617898 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... |
ORPHA:83468 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Type A1 brachyd... |
OMIM:113450 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Coloboma Of Macula With Type B Brachydactyly |
|
Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... |
OMIM:120400 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis |
ORPHA:2064 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis |
ORPHA:2010 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Triphalangeal thumb |
OMIM:256690 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Li... |
ORPHA:3265 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Bowen-Conradi Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Rocker bottom foot |
OMIM:211180 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... |
ORPHA:1471 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Renal agenesis, Abnormal hip bone morphology, Syndactyly, Polydactyly, Sti... |
ORPHA:294975 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Single transver... |
OMIM:227270 |
Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... |
ORPHA:1350 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Fused cervical vertebrae, Tar... |
OMIM:618469 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... |
ORPHA:1837 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Distal Arthrogryposis Type 1 |
|
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... |
ORPHA:1146 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Unilateral renal agenesis |
OMIM:235740 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Arthrogryposis, Distal, Type 1B |
|
Rocker bottom foot, Talipes equinovarus, Joint contracture of the hand, Camptodactyly |
OMIM:614335 |
Sheldon-Hall Syndrome |
|
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Overlapping fingers, Bilateral sin... |
ORPHA:1147 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Dermatoosteolysis, Kirghizian Type |
|
Abnormality of the hand, Osteoarthritis, Brachydactyly, Abnormality of the wrist, Osteolysis, Abn... |
ORPHA:1657 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... |
OMIM:135750 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormality of the elbow, Delayed skeletal... |
ORPHA:3268 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Joint stiffness, Clinodactyly of the 5th finger, Abnormality of ... |
ORPHA:2496 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... |
OMIM:186500 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Osteochondrosis Of The Tarsal Bone |
|
Tarsal sclerosis, Pedal edema, Flattening of the talar dome, Tarsal stippling, Abnormal tarsal os... |
ORPHA:563991 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism |
OMIM:241000 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... |
OMIM:311300 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Tarsal synosto... |
ORPHA:3429 |
Blount Disease |
|
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly of the 5th finger, Proximal symphalangism of hands, Proximal radio-ulnar synostosis,... |
ORPHA:363417 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... |
OMIM:613073 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypoplasia of the rad... |
ORPHA:1307 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... |
ORPHA:166002 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly |
ORPHA:238446 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly |
OMIM:609428 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Brachydactyly, Combined B And E Types |
|
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... |
OMIM:112440 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Verte... |
OMIM:618845 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Hypermobility of interphalangeal joints, 2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Absent radius, Ectopic kidney, Absent thumb |
OMIM:179280 |
Arthrogryposis, Distal, Type 1A |
|
Overlapping toe, Talipes equinovarus, Joint contracture of the hand, Adducted thumb, Congenital h... |
OMIM:108120 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... |
OMIM:615349 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Hyporeflexia of lower limbs, Areflexia of lower limbs |
OMIM:162370 |
Juberg-Hayward Syndrome |
|
Abnormality of toe, Limited elbow extension, Horseshoe kidney, Abnormality of the radial head, Ap... |
OMIM:216100 |
Muenke Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped middle phalanges of hand, Coro... |
OMIM:602849 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Absent humerus, Knee dislocation, Distal tapering femur, Absent radius, Shor... |
ORPHA:56305 |
Muenke Syndrome |
|
Carpal synostosis, Coronal craniosynostosis, Cone-shaped epiphysis, Short foot, Tarsal synostosis... |
ORPHA:53271 |
Mueller-Weiss Syndrome |
|
Talipes calcaneovarus, Edema of the dorsum of feet, Limitation of movement at ankles, Fragmented,... |
ORPHA:566943 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Joint hyperf... |
ORPHA:9 |
Waardenburg Syndrome, Type 3 |
|
Carpal synostosis, Joint contracture of the hand, Camptodactyly of finger, Brachydactyly, Clinoda... |
OMIM:148820 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism |
OMIM:615983 |
Arthrogryposis, Distal, Type 2B1 |
|
Talipes equinovarus, Micrognathia, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar d... |
OMIM:601680 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Waardenburg Syndrome Type 3 |
|
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... |
ORPHA:896 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Postaxial hand polydactyly, Sh... |
OMIM:263540 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... |
OMIM:201170 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Humeroradial Synostosis With Craniofacial Anomalies |
|
Carpal synostosis, Humeroradial synostosis, Tarsal synostosis |
OMIM:236410 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Short metacarpal, Upper limb undergrowth, Arthralgia of the hip,... |
ORPHA:93307 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... |
OMIM:260660 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... |
ORPHA:3258 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Epiphyseal dysplasia, Delayed epiphyseal ossification, Generalized joint laxity,... |
OMIM:132400 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Renal agenesis, Micrognathia, Syndactyly, Hypoplasia of the ulna, Renal... |
OMIM:212780 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypop... |
ORPHA:163966 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Cardiospondylocarpofacial Syndrome |
|
Short palm, Brachydactyly, Synostosis of carpal bones |
ORPHA:3238 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Hip dysplasia, Brachyd... |
OMIM:226900 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia, Renal cyst, Renal hy... |
OMIM:228940 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Partial fusion of tarsals,... |
OMIM:305620 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Brachydactyly Type E |
|
Short distal phalanx of finger, Joint hyperflexibility, Upper limb asymmetry, Type E brachydactyl... |
ORPHA:93387 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly, Craniosynostosis |
OMIM:109050 |
Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Short 1st metacarpal, Synostosis ... |
ORPHA:2438 |
Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Symphalangism affecting the phalanges... |
ORPHA:710 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Absent radius, Short humerus, Shoulder... |
OMIM:171480 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Otoonychoperoneal Syndrome |
|
Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Knee flexion contracture |
OMIM:259780 |
Microphthalmia With Limb Anomalies |
|
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... |
ORPHA:1106 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Pes planu... |
ORPHA:521308 |
Winchester Syndrome |
|
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized... |
OMIM:277950 |
Gordon Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Talipes, Limitation of joint mobility, F... |
ORPHA:376 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Hand monodactyly, Split foot |
OMIM:183800 |
Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostosis of carp... |
ORPHA:3121 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Synostosis of carpals/tarsals |
OMIM:269630 |
Ivic Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones,... |
ORPHA:2307 |
Otofacioosseous-Gonadal Syndrome |
|
Carpal synostosis, Talipes equinovarus, Short hallux, Wormian bones, Genu valgum, Delayed skeleta... |
OMIM:601976 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Abnormality of the hand, Short tibia,... |
OMIM:251230 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Craniosynostosis, Camptodactyly, Elbow fle... |
OMIM:178110 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... |
OMIM:609052 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... |
OMIM:602418 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Joint stiffness, Abnormal hip bone morphology, Camptodactyly of finger, Synostosis of carpal bone... |
ORPHA:1323 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Decreased fertility, Abnormal morphology of ulna, Hypogonadism |
ORPHA:2233 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... |
OMIM:614814 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Camptomelic Syndrome, Long-Limb Type |
|
Micromelia, Bowing of the long bones |
OMIM:211990 |
Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Renal agenesis |
OMIM:236110 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
Sclerosteosis |
|
Increased bone mineral density, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges... |
ORPHA:3152 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge... |
ORPHA:166024 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Renal hypoplasia/aplasia, Talipes equinovarus, Microretrognathia,... |
ORPHA:1788 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Cone-shaped epiphysis, Genu valgum, Pr... |
ORPHA:457395 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Short thumb, Shor... |
OMIM:614326 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, A... |
OMIM:215045 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4... |
ORPHA:79445 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Split hand, Short humerus, Micromelia, Posta... |
ORPHA:2491 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... |
OMIM:274000 |
Bowen-Conradi Syndrome |
|
Micrognathia, Camptodactyly of finger, Clinodactyly of the 5th finger, Rocker bottom foot |
ORPHA:1270 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Mesomelia, Abnormal shoulder morphology, Brachydactyly, Micrognathia |
ORPHA:1277 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
Dysspondyloenchondromatosis |
|
Enlarged joints, Joint dislocation, Generalized joint laxity, Osteoarthritis, Abnormal ulnar meta... |
ORPHA:85198 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... |
ORPHA:93430 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Micromelia, Hypoplasia of the capital femora... |
ORPHA:85166 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide... |
ORPHA:2502 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Irregular epiphyses, Abnor... |
OMIM:600969 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Unilateral renal agenesis |
OMIM:601355 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst, Hypogonadism |
OMIM:615982 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Talipes equinovarus, Rocker bottom foot |
OMIM:616570 |
Laron Syndrome |
|
Delayed menarche, Abnormal joint morphology, Short long bone, Limb undergrowth |
OMIM:262500 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Finger joint hypermobility,... |
OMIM:244200 |
Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly |
ORPHA:391646 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, Abnormal metacarpal morphology,... |
ORPHA:2631 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Brachydactyly, Short metacarpal |
OMIM:113400 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Micromelia, Nonopposable triphalangeal thumb |
ORPHA:2252 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, 11 pairs of ribs, Rhizomelia, Renal hypoplasia... |
OMIM:617661 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, Short phalanx of finger, Short metacarpal |
OMIM:618724 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Ulnar deviation of the hand ... |
OMIM:600383 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Single t... |
OMIM:206920 |
Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
Brachymetatarsus Iv |
|
Short 4th toe, Short fourth metatarsal |
OMIM:113475 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Unil... |
OMIM:618142 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Pes planus, Genu recurvatum |
OMIM:225320 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, Cox... |
OMIM:272460 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus |
OMIM:614257 |
Hypochondroplasia |
|
Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly, Genu varum, Micromelia... |
ORPHA:429 |
Astley-Kendall Dysplasia |
|
Micromelia, Epiphyseal stippling |
ORPHA:85175 |
Short Stature-Obesity Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia, Limb undergrowth |
OMIM:269870 |
Summitt Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Prominent metopic ridge, Camptodactyly of finge... |
ORPHA:3210 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... |
ORPHA:1802 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, 11 pa... |
OMIM:300863 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, Micromelia, Ulnar... |
ORPHA:2249 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vertebral segmenta... |
ORPHA:90652 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis |
OMIM:274210 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand p... |
ORPHA:1278 |
Acrootoocular Syndrome |
|
Short toe, Decreased palmar creases, Abnormal finger flexion creases, Palmar hyperkeratosis, Smal... |
ORPHA:2980 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Jeune Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Brachydactyly, Nephropathy, Postaxial hand p... |
ORPHA:474 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Short... |
ORPHA:1005 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... |
OMIM:127200 |
Brachydactyly, Type E2 |
|
Short metatarsal, Brachydactyly, Short metacarpal |
OMIM:613382 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Delayed cranial suture closure, Syndactyly, Aplasia/Hypoplasia of ... |
OMIM:113000 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Hydronephrosis, Hypogonadism |
ORPHA:85173 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... |
OMIM:250230 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Enlarged joints, Bowing of the legs, Limited elbow extension, Limb undergrowth |
ORPHA:156728 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phal... |
ORPHA:2256 |
Acrorenal Syndrome, Autosomal Recessive |
|
Split hand, Split foot, Renal hypoplasia, Clinodactyly, Renal insufficiency, Decreased numbers of... |
OMIM:201310 |
Greig Cephalopolysyndactyly Syndrome |
|
Accelerated skeletal maturation, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalan... |
ORPHA:380 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormal femoral neck/head morphology, Abnormal metatarsal morphology, Limited mobility of proxim... |
ORPHA:85438 |
Arthrogryposis, Distal, Type 5D |
|
Talipes equinovarus, Adducted thumb, Micrognathia, Camptodactyly, Elbow flexion contracture, Calc... |
OMIM:615065 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Acrocephalopolydactyly |
|
Genu recurvatum, Brachydactyly, Abnormal renal morphology, Limb undergrowth, Short long bone |
ORPHA:221054 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed... |
OMIM:184260 |
Microduplication Xp11.22P11.23 Syndrome |
|
Pes planus, Pes cavus, Toe syndactyly |
ORPHA:217377 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... |
OMIM:194350 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... |
OMIM:618435 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... |
OMIM:613091 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
2-3 toe syndactyly, Limited elbow extension, Cubitus valgus, Clinodactyly, Abnormal foot morpholo... |
OMIM:610313 |
Sclerosteosis 2 |
|
Cutaneous finger syndactyly, Short finger |
OMIM:614305 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of lower limbs, Pes planus, Calcaneovalgus deformity, Hyporeflexia of upper limbs, A... |
ORPHA:93952 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Seckel Syndrome 7 |
|
Primary amenorrhea, Madelung deformity, Clinodactyly, Hip dysplasia, Abnormal carpal morphology |
OMIM:614851 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology |
ORPHA:177910 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral renal agenesi... |
ORPHA:3306 |
Roberts Syndrome |
|
Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis,... |
ORPHA:3103 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... |
OMIM:300244 |
Exostoses, Multiple, Type Ii |
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Coxa vara, Madelung-like forearm deformities, Genu valgum, Protuberances at ends of long bones, P... |
OMIM:133701 |
Exostoses, Multiple, Type I |
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Coxa vara, Madelung-like forearm deformities, Genu valgum, Protuberances at ends of long bones, P... |
OMIM:133700 |
Acitretin/Etretinate Embryopathy |
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Aplasia/Hypoplasia of the maxilla, Micrognathia, Abnormality of the calcaneus, Aplasia/hypoplasia... |
ORPHA:40366 |
Congenital Bowing Of Long Bones |
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Bowing of the long bones |
ORPHA:2292 |
Cutis Laxa, Autosomal Dominant 3 |
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Talipes equinovarus, Adducted thumb, Unilateral renal agenesis, Delayed cranial suture closure, W... |
OMIM:616603 |
Larsen-Like Syndrome |
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Clinodactyly of the 5th finger, Talipes equinovarus, Bipartite calcaneus, Radial deviation of the... |
OMIM:608545 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Syndactyly, Brachydactyly, Clinodactyly |
OMIM:610023 |
Three M Syndrome 3 |
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Clinodactyly of the 5th finger, Hip dysplasia, Slender long bone, Prominent calcaneus |
OMIM:614205 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
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Hydroureter, Hydronephrosis |
OMIM:264140 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
Ulnar Agenesis And Endocardial Fibroelastosis |
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Aplasia of the ulna, Neonatal death, Hand oligodactyly |
OMIM:276822 |
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
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Split hand, Short metatarsal, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:106990 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Brachydactyly, Delayed ossification of carpal bones |
OMIM:618392 |
Grant Syndrome |
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Tibial bowing, Down-sloping shoulders, Wormian bones |
OMIM:138930 |
Shox-Related Short Stature |
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Forearm undergrowth, Tibial bowing, Genu valgum, Cubitus valgus, Short foot, Madelung deformity, ... |
ORPHA:314795 |
Schizophrenia 1 |
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Partially duplicated kidney, Short proximal phalanx of the 4th toe, Renal agenesis, Syndactyly, E... |
OMIM:181510 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Atelosteogenesis, Type Ii |
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Talipes equinovarus, Bifid humerus, Micrognathia, Micromelia, Limb undergrowth, Short middle phal... |
OMIM:256050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Radial head sublu... |
OMIM:271640 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... |
OMIM:276820 |
Hypoplastic Femurs And Pelvis |
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Hypoplastic pelvis, Short femur |
OMIM:619545 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Thoracomelic Dysplasia |
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Short ribs, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow dislocation, A... |
ORPHA:1803 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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Talipes equinovarus, Adducted thumb, Micrognathia, 11 pairs of ribs, Camptodactyly, Elbow flexion... |
OMIM:616266 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
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Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal phalanges of the fin... |
OMIM:616809 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Epiphyseal dysplasia, Fragmented epiphyses, Metaphyseal irregularity, Flat capital femoral epiphy... |
ORPHA:93360 |
Lethal Recessive Chondrodysplasia |
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Micrognathia, Micromelia, Limb undergrowth, Flared elbow metaphyses, Short long bone |
ORPHA:1423 |
Acrodysostosis |
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Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Irregula... |
ORPHA:950 |
Chromosome 8Q22.1 Duplication Syndrome |
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Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Interphalangeal joint contra... |
OMIM:151200 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Renal Dysplasia-Limb Defects Syndrome |
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Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... |
OMIM:266910 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
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Postaxial hand polydactyly, Foot polydactyly, Renal agenesis |
ORPHA:2155 |
Oslam Syndrome |
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Radial deviation of finger, Clinodactyly, Radioulnar synostosis |
OMIM:165660 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Camptobrachydactyly |
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Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly |
OMIM:114150 |
Aplasia Cutis Congenita |
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Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly |
ORPHA:1114 |
Thanatophoric Dysplasia, Glasgow Variant |
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Micromelia, Neonatal death |
OMIM:273680 |
Carpenter Syndrome |
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Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand pol... |
ORPHA:65759 |
Chromosome 16P13.3 Duplication Syndrome |
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Short toe, Pes cavus, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proxi... |
OMIM:613458 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
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Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... |
ORPHA:2251 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Renal Agenesis |
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Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... |
ORPHA:2928 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Ulnar deviation of the hand, Bilateral renal atrophy, Metatarsal osteolysis, Micrognathia, Bilate... |
OMIM:166300 |
Charlie M Syndrome |
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Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly |
ORPHA:1406 |
Polydactyly, Postaxial, Type A7 |
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Postaxial polydactyly |
OMIM:617642 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
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Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth |
OMIM:601016 |
Spondylometaphyseal Dysplasia, A4 Type |
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Coxa vara, Short palm, Micromelia |
ORPHA:168555 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Thalidomide Embryopathy |
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Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Microcephaly, Short Stature, And Limb Abnormalities |
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Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga |
OMIM:132450 |
Nager Syndrome |
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Hypoplasia of the radius, Unilateral renal agenesis, Micrognathia, Aplasia/Hypoplasia of the radi... |
ORPHA:245 |
Meckel Syndrome 13 |
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Polycystic kidney dysplasia |
OMIM:617562 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Dyschondrosteosis-Nephritis Syndrome |
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Radial bowing, Micromelia, Nephropathy, Hematuria, Aplasia/Hypoplasia of the radius, Madelung def... |
ORPHA:1765 |
Hyperparathyroidism 2 With Jaw Tumors |
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Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Weaver Syndrome |
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Prominent fingertip pads, Short fourth metatarsal, Single transverse palmar crease, Flared humera... |
OMIM:277590 |
Ectrodactyly-Polydactyly |
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Postaxial hand polydactyly, Split hand, Split foot |
OMIM:225290 |
Pallister-Hall Syndrome |
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Y-shaped metacarpals, Radial head subluxation, Distal shortening of limbs, Distal urethral duplic... |
OMIM:146510 |
Atelosteogenesis, Type Iii |
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Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Tombstone-shaped proximal ph... |
OMIM:108721 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
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Deviation of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Prominent metopic ... |
OMIM:616362 |
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