| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ... |
ORPHA:1802 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
| Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
| Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
| Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
| 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 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... |
ORPHA:2760 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
| 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 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... |
OMIM:231095 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| 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 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... |
OMIM:601560 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... |
ORPHA:2639 |
| Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... |
OMIM:251230 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Mic... |
ORPHA:56305 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Craniosynostosis |
OMIM:218550 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Osteopenia, Camptodactyly of finger, Short tibia, Aplasia/... |
ORPHA:356961 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
| Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
| Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... |
OMIM:112350 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Persistence of hemoglobin F, Micrognathia, Mac... |
OMIM:612561 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
| Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Toe syndactyly, Camptodactyly |
OMIM:258865 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
| Omodysplasia 1 |
|
Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Micrognathia, S... |
OMIM:258315 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
| Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth |
OMIM:236640 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Micrognathia, Abnormal... |
ORPHA:3035 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
| Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
| Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... |
ORPHA:314795 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Osteopenia, Osteoporosis, Macrocytic anemia, Triphalangeal thu... |
OMIM:612562 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Syndactyly, Osteoporosis, Macrocytic anemia, Clin... |
ORPHA:2169 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Decreased calvaria... |
OMIM:617925 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed ossification of carpal bones, Delayed tarsa... |
OMIM:600002 |
| Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... |
ORPHA:198 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Abnormal iliac wing morphology, Short metacarpal, Abnormally... |
ORPHA:1427 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pancytopenia, Le... |
ORPHA:811 |
| Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
| Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
| Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
| Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Short metacarpal, Femoral retroversion, Osteop... |
OMIM:610915 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... |
OMIM:211350 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Upper limb undergrowth, Genu valgum, Short long bone, Short distal... |
ORPHA:93315 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Absent thumb, Persistence of hemoglobin F, Microg... |
ORPHA:124 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
| Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of... |
OMIM:260660 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
| Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Narrow greater sciatic... |
OMIM:228520 |
| Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
| Acro-Renal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... |
ORPHA:85165 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Micrognathia, Proximal placement of thumb, Thrombocytopenia, H... |
ORPHA:261250 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... |
ORPHA:3144 |
| Acrorenal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... |
OMIM:200980 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Apla... |
OMIM:276820 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... |
OMIM:114290 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
| Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia |
ORPHA:1827 |
| Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Short toe, Short ribs, Short humerus, Brachydactyly, Osteoporosis... |
OMIM:218330 |
| Osteopathia Striata With Cranial Sclerosis |
|
Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture o... |
OMIM:300373 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
| Kinsship Syndrome |
|
Dislocated radial head, Osteopenia, Micrognathia, Polydactyly, Mesomelia, Pes planus, Fibular hyp... |
OMIM:619297 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Camptodactyly of finger, Preaxi... |
ORPHA:2753 |
| Charge Syndrome |
|
Absent tibia, Lymphopenia, Bilateral talipes equinovarus, Absent radius, Micrognathia, Down-slopi... |
OMIM:214800 |
| Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia, Pedal e... |
ORPHA:97214 |
