Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Genochondromatosis |
|
Metaphyseal chondromatosis of humerus, Metaphyseal chondromatosis of femur |
OMIM:137360 |
Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Congenital Radioulnar Synostosis |
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Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Fibular Aplasia-Ectrodactyly Syndrome |
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Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Femur-Fibula-Ulna Complex |
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Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
Arms, Malformation Of |
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Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Gollop-Wolfgang Complex |
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Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Upper Limb Mesomelic Dysplasia |
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Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Robin Sequence-Oligodactyly Syndrome |
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Hand oligodactyly, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morph... |
ORPHA:3104 |
Humero-Radio-Ulnar Synostosis |
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Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... |
ORPHA:3266 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
Langer Mesomelic Dysplasia |
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Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... |
ORPHA:2632 |
Ulnar Hypoplasia |
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Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
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Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Ulnar Hypoplasia-Split Foot Syndrome |
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Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... |
ORPHA:971 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Ulna Metaphyseal Dysplasia Syndrome |
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Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Madelung deformity, Radial bowing, Limited pronation/supination of forearm |
DECIPHER:58 |
Weismann-Netter Syndrome |
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Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
Radial Hemimelia |
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Aplasia of the 1st metacarpal, Deviation of the hand or of fingers of the hand, Abnormality of th... |
ORPHA:93321 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
Postaxial Oligodactyly, Tetramelic |
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Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ... |
OMIM:249700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome |
|
Bowing of the long bones |
ORPHA:2292 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Postaxial Tetramelic Oligodactyly |
|
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly |
ORPHA:2730 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus |
OMIM:276821 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis |
OMIM:156232 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Exostoses, Multiple, Type Ii |
|
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... |
OMIM:133700 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones |
OMIM:211990 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... |
ORPHA:93307 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads, Short humerus |
OMIM:601438 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Oslam Syndrome |
|
Radial deviation of finger, Clinodactyly, Radioulnar synostosis |
OMIM:165660 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna... |
ORPHA:1972 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Abn... |
ORPHA:2878 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Narrow palm, Short foot, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
Acrodysostosis |
|
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... |
ORPHA:950 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Dysspondyloenchondromatosis |
|
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... |
ORPHA:85198 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal placement of thumb, Proximal ... |
OMIM:602418 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... |
OMIM:142900 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
Nievergelt Syndrome |
|
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus |
OMIM:163400 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Radioulnar synostos... |
OMIM:194350 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Oligod... |
ORPHA:1307 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab... |
ORPHA:2725 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna,... |
OMIM:227270 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,... |
ORPHA:2249 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... |
ORPHA:3320 |
Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing |
ORPHA:1765 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Abnormal pelvic girdle bone morphology, Hand oligodacty... |
ORPHA:1788 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Short meta... |
OMIM:619636 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn... |
OMIM:617604 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Coxa vara, Short 1st metacarpal, Radial bowing, Ivory epiphyses, Narrow p... |
OMIM:210720 |
Multiple Osteochondromas |
|
Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen... |
ORPHA:321 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, Femoral bowing,... |
OMIM:211350 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... |
OMIM:614900 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology, Hand polydactyly |
ORPHA:2167 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
Oslam Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Abnormal ... |
ORPHA:251014 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... |
OMIM:147750 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Radioulnar synostosis, Limited pronation/supination of forearm, Short middle phalanx of the 4th f... |
OMIM:616738 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius |
OMIM:602200 |
Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem... |
OMIM:100800 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Single transverse palmar cre... |
OMIM:617866 |
Camurati-Engelmann Disease |
|
Genu valgum, Coxa valga, Abnormality of the humerus, Abnormal morphology of the radius, Cortical ... |
ORPHA:1328 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Avascular necrosis of the capital femoral... |
OMIM:212720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Phocomelia, Abnormal shoulder... |
OMIM:274000 |
Marshall Syndrome |
|
Coxa valga, Hypoplastic ilia, Radial bowing, Irregular distal femoral epiphysis, Ulnar bowing, Cl... |
OMIM:154780 |
Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Joint contracture of the hand, Slender long bone, Long hallux, Cam... |
OMIM:600920 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Lower limb undergrowth, Abnormality of fibula morphology, Bowing of the long bones... |
ORPHA:3035 |
Atelosteogenesis, Type I |
|
Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Tibia... |
OMIM:108720 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Fibrous Dysplasia Of Bone |
|
Coxa vara, Abnormality of the humerus, Abnormal morphology of the radius, Abnormal pelvis bone mo... |
ORPHA:249 |
Paget Disease Of Bone 2, Early-Onset |
|
Femoral bowing, Short femur, Osteosclerosis of the ulna, Bowing of the long bones, Fractures of t... |
OMIM:602080 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... |
ORPHA:3138 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Small hand, Finger symphalangism, Abnormality... |
ORPHA:2911 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Camptodactyly, Femoral bowing, Arachno... |
OMIM:207410 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Aplasia of t... |
ORPHA:2879 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Deviation of the 5th fing... |
OMIM:143095 |
Cardiofaciocutaneous Syndrome |
|
Genu valgum, Abnormal morphology of ulna, Palmoplantar keratoderma, Cubitus valgus, Deep palmar c... |
ORPHA:1340 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221008 |
Fanconi Anemia |
|
Triphalangeal thumb, Abnormality of the upper limb, Finger syndactyly, Toe syndactyly, Aplasia/Hy... |
ORPHA:84 |
Ulnar-Mammary Syndrome |
|
Short 5th toe, Aplasia of the 3rd finger, Aplasia of the 5th metacarpal, Deformed radius, Short 5... |
OMIM:181450 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo... |
OMIM:304120 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Rothmund-Thomson Syndrome |
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Broad ulna, Metaphyseal striations, Hypoplasia of the ulna, Palmar hyperkeratosis, Aplasia/Hypopl... |
ORPHA:2909 |
Cornelia De Lange Syndrome |
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Small hand, Short 1st metacarpal, Toe syndactyly, Hip dysplasia, Hip dislocation, Radioulnar syno... |
ORPHA:199 |
Bartsocas-Papas Syndrome 1 |
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Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Short metacarpal, Ulnar bowing, Ab... |
OMIM:263650 |
Baller-Gerold Syndrome |
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Forearm undergrowth, Absent thumb, Radial deviation of the hand, Patellar hypoplasia, Patellar ap... |
OMIM:218600 |
Ulbright-Hodes Syndrome |
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Short sternum, Humeroradial synostosis, Short metacarpal, Hypoplasia of the radius, Talipes equin... |
ORPHA:3404 |
Aspartylglucosaminuria |
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Abnormal morphology of ulna |
ORPHA:93 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Humeroradial synostosis, Joint contracture of the hand, Radioulnar synostosis, Camptodactyly, Car... |
OMIM:201750 |