Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly |
OMIM:276822 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Metaphyseal Anadysplasia |
|
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... |
ORPHA:1570 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Sc phocomelia syndrome |
|
Aplasia of the ulna, Micrognathia, Short thumb, Phocomelia, Clinodactyly, Radial deviation of fin... |
OMIM:269000 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly... |
ORPHA:2491 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... |
ORPHA:1275 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... |
OMIM:127300 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... |
OMIM:602418 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Elbow flexion contracture, Absent proximal radial ep... |
OMIM:249600 |
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 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Absent radius, Short humerus, Shoulder... |
OMIM:171480 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... |
ORPHA:1972 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Aplasia of the ulna, Short clavicles, Aplasia of the 3rd finger, H... |
OMIM:181450 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... |
ORPHA:2249 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... |
ORPHA:1350 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... |
OMIM:276820 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Single transver... |
OMIM:227270 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... |
OMIM:266910 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Arrhin... |
ORPHA:1788 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Forearm undergrowth, Bowed forearm bones, Absent radius, Absent thumb |
OMIM:602200 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... |
ORPHA:75508 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... |
ORPHA:1837 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent ra... |
OMIM:617247 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... |
OMIM:608571 |
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 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Aase-Smith Syndrome |
|
Talipes equinovarus, Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Aplas... |
ORPHA:916 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Micrognathia, Mic... |
OMIM:251230 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius |
OMIM:314390 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Micromelia, Nonopposable triphalangeal thumb |
ORPHA:2252 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
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 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Mesomelia, Micrognathia, Syndactyly |
OMIM:228940 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... |
OMIM:186500 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... |
OMIM:614900 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Auriculoosteodysplasia |
|
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d... |
ORPHA:114 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Aplasia of the 1st metacarp... |
ORPHA:1352 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Small thenar eminence, Short thumb, Distally placed thumb |
OMIM:179270 |
Mietens Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplasia of the radius,... |
ORPHA:2557 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... |
OMIM:274000 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Absent humerus, Distal tapering femur, Absent radius, Short tibia, Abnormali... |
ORPHA:56305 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Aplasia of the 1st metacarp... |
OMIM:600123 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy... |
ORPHA:2256 |
Acrofacial Dysostosis 1, Nager Type |
|
Hypoplasia of first ribs, Overlapping toe, Short toe, Talipes equinovarus, Absent thumb, Hypoplas... |
OMIM:154400 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar eminence, Short humer... |
OMIM:607323 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr... |
OMIM:304950 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Short femoral neck, Tapered finger, Carpal bone... |
OMIM:618395 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Cubitus valgus, Short foot, Madelu... |
ORPHA:314795 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... |
ORPHA:950 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... |
ORPHA:3258 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... |
ORPHA:3138 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of the ulna, Finger s... |
ORPHA:246 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella |
ORPHA:1149 |
Pallister W Syndrome |
|
Radial bowing, Joint contracture of the hand, Camptodactyly, Hypoplasia of the ulna, Cubitus valg... |
OMIM:311450 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abnormality of the hand, Micrognathia, Tapere... |
ORPHA:476126 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
W Syndrome |
|
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Cubitus valgus, Clinodactyly, Metatarsus ad... |
ORPHA:2804 |
Sheldon-Hall Syndrome |
|
Abnormal hip bone morphology, Adducted thumb, Micrognathia, Overlapping fingers, Bilateral single... |
ORPHA:1147 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Hammertoe, Abnormal metac... |
ORPHA:2319 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... |
OMIM:613091 |
Acromesomelic Dysplasia 1 |
|
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... |
OMIM:602875 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... |
OMIM:184253 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Hypoplasia of the radius,... |
OMIM:602613 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly |
ORPHA:2476 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2233 |
Holt-Oram Syndrome |
|
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... |
ORPHA:392 |
Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Micrognathia, Hypoplasia... |
OMIM:619135 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
Duane Retraction Syndrome |
|
Talipes equinovarus, Hypoplasia of the radius, Absent radius, Micrognathia, Brachydactyly, Spina ... |
ORPHA:233 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Baller-Gerold Syndrome |
|
Carpal synostosis, Hypoplasia of the radius, Micrognathia, Carpal bone aplasia, Short humerus, Li... |
OMIM:218600 |
Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... |
ORPHA:959 |
3M Syndrome |
|
Clinodactyly of the 5th finger, Congenital hip dislocation, Micromelia, Hypoplastic pubic bone, S... |
ORPHA:2616 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing |
ORPHA:1765 |
Van Den Ende-Gupta Syndrome |
|
Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Long hallux, Talipes ... |
OMIM:600920 |
Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Absence of the sacrum, Sirenomelia |
ORPHA:3169 |
Fanconi Anemia, Complementation Group E |
|
Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb |
OMIM:600901 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Microretrognathia, Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abn... |
ORPHA:1307 |
Bartsocas-Papas Syndrome 1 |
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Talipes equinovarus, Absent thumb, Micrognathia, Syndactyly, Short phalanx of finger, Short thumb... |
OMIM:263650 |
Acro-Renal-Mandibular Syndrome |
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Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
Fanconi Anemia, Complementation Group A |
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Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb |
OMIM:227650 |
Fanconi Anemia, Complementation Group B |
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Bilateral radial aplasia, Absent thumb |
OMIM:300514 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
Postaxial Acrofacial Dysostosis |
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Hypoplasia of the radius, Micrognathia, Congenital hip dislocation, Syndactyly, Radioulnar synost... |
OMIM:263750 |
Fanconi Anemia, Complementation Group C |
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Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
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Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb, Complete duplicat... |
OMIM:227646 |
Robinow Syndrome, Autosomal Recessive 1 |
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Hypoplastic sacrum, Hypoplasia of the radius, Duplication of the distal phalanx of hand, Umbilica... |
OMIM:268310 |
Distal Trisomy 5Q |
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Absent thumb, Hypoplasia of the radius, Micrognathia, Brachydactyly, Hypoplasia of the ulna |
ORPHA:96097 |
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 |
Acrorenal-Mandibular Syndrome |
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Split foot, Hypoplasia of the radius, Hand polydactyly, Micrognathia, Rudimentary fibula, Rudimen... |
OMIM:200980 |
Fanconi Anemia, Complementation Group L |
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Absent thumb, Hypoplastic sacrum, Bilateral talipes equinovarus, Micrognathia, Absent radius |
OMIM:614083 |
Ivic Syndrome |
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Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Radioulnar synos... |
ORPHA:2307 |
Vater/Vacterl Association |
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Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Short thumb, Radioulnar synostosis, T... |
OMIM:192350 |
Klippel-Trénaunay Syndrome |
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Pulmonary embolism, Prolonged bleeding time, Patent ductus arteriosus, Internal hemorrhage, Gastr... |
ORPHA:90308 |
Lacrimoauriculodentodigital Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... |
OMIM:149730 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Sma... |
OMIM:143095 |
Congenital Fibrinogen Deficiency |
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Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Ulbright-Hodes Syndrome |
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Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... |
ORPHA:3404 |
Cat Eye Syndrome |
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Micrognathia, Absent radius, Umbilical hernia |
OMIM:115470 |
Steinfeld Syndrome |
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Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Missing ribs, Aplasia/Hypoplasia of... |
OMIM:184705 |
Multiple Osteochondromas |
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Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Genu... |
ORPHA:321 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Moebius Syndrome |
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Absent hand, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morphology of ulna, Ap... |
ORPHA:570 |
Acquired Purpura Fulminans |
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Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
Microgastria-Limb Reduction Defects Association |
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Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Arrhinencephaly, Hypoplasia of the uln... |
OMIM:156810 |
2Q31.1 Microdeletion Syndrome |
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Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Micrognathia, Broad ha... |
ORPHA:251014 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Phocomelia, Missing... |
ORPHA:3186 |
Alagille Syndrome |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Spina bifida occult... |
ORPHA:52 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Hypoplasia of the ulna |
OMIM:615398 |
Holzgreve Syndrome |
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Hand polydactyly, Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2167 |
Rhabdoid Tumor |
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Hypertension, Internal hemorrhage |
ORPHA:69077 |
Poland Syndrome |
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Absent hand, Short ribs, Abnormal morphology of ulna, Hand polydactyly, Aplasia of the pectoralis... |
ORPHA:2911 |
Rothmund-Thomson Syndrome |
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Palmar hyperkeratosis, Broad ulna, Aplasia/Hypoplasia of the patella, Metaphyseal striations, Hyp... |
ORPHA:2909 |
Fanconi Anemia |
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Abnormality of femur morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, A... |
ORPHA:84 |
Charge Syndrome |
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Absent tibia, Abnormal palmar dermatoglyphics, Bilateral talipes equinovarus, Absent radius, Micr... |
OMIM:214800 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Wiskott-Aldrich Syndrome |
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Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... |
ORPHA:906 |
Camurati-Engelmann Disease |
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Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... |
ORPHA:1328 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Hemorrhagic Fever-Renal Syndrome |
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Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... |
ORPHA:340 |
Marburg Hemorrhagic Fever |
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Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... |
ORPHA:99826 |
Hellp Syndrome |
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Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Short distal phalanx of finger |
OMIM:118450 |
Yellow Fever |
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Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleed... |
ORPHA:99829 |
Superficial Siderosis |
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Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal hemorrhage |
ORPHA:247245 |
Hepatocellular Carcinoma |
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Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension |
ORPHA:88673 |
Tuberous Sclerosis Complex |
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Hypertension, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
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Telangiectasia of the skin, Bruising susceptibility, Abnormal bleeding, Renovascular hypertension... |
ORPHA:286 |