Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Upington Disease |
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Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... |
ORPHA:3408 |
Coxopodopatellar Syndrome |
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Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Blount Disease |
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Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
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Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
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Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Beukes Hip Dysplasia |
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Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Epiphyseal Dysplasia, Multiple, 5 |
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Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Developmental Dysplasia Of The Hip 2 |
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Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga |
OMIM:615612 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
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Knee dislocation, Hip dysplasia, Hip dislocation, Hammertoe |
ORPHA:370943 |
Epiphyseal Dysplasia, Multiple, 4 |
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Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... |
ORPHA:93356 |
Distal Arthrogryposis Type 1 |
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Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger, Abnormal hip bone morphol... |
ORPHA:1146 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
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Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Ulnar deviate... |
ORPHA:166002 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Mesomelic Dysplasia, Savarirayan Type |
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Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
Ghosal Hematodiaphyseal Dysplasia |
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Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Epiphyseal Dysplasia, Multiple, 6 |
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Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Osteoarthritis, Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
Multiple Epiphyseal Dysplasia Type 1 |
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Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hypochondroplasia |
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Bowing of the long bones, Brachydactyly, Micromelia, Osteoarthritis, Abnormality of the elbow, Sh... |
ORPHA:429 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad femoral neck, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal widening, Ge... |
OMIM:156500 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral bo... |
OMIM:602111 |
Pseudoachondroplasia |
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Osteoarthritis, Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles... |
ORPHA:750 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Grant Syndrome |
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Wormian bones, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Eiken Syndrome |
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Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... |
ORPHA:79106 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... |
ORPHA:2631 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Shox-Related Short Stature |
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Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower l... |
ORPHA:314795 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora... |
OMIM:249700 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Mesomelic Dysplasia, Savarirayan Type |
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Delayed closure of the anterior fontanelle, Hip dislocation, Mesomelia, Short tibia, Dislocated r... |
OMIM:605274 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... |
ORPHA:2928 |
Thoracomelic Dysplasia |
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Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Coxoauricular Syndrome |
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Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormality of the ankle, Abnormal ... |
ORPHA:970 |
Weismann-Netter Syndrome |
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Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Femoral bowing, Gen... |
OMIM:600785 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Laurin-Sandrow Syndrome |
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Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Rhizomelia, Deformed tarsal bones, Absent toe, Short metatarsal, Fibular hypopl... |
OMIM:228900 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Osteosclerosis With Ichthyosis And Fractures |
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Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Atelosteogenesis, Type Ii |
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Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnorma... |
OMIM:256050 |
Atelosteogenesis, Type Iii |
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Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Fl... |
OMIM:108721 |
Jeune Syndrome |
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Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Patellar a... |
ORPHA:3329 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Satoyoshi Syndrome |
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Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal joint morphology, A... |
ORPHA:3130 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Acheiropody |
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Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radius, Absent h... |
OMIM:200500 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral cond... |
OMIM:307800 |
Endosteal Hyperostosis, Autosomal Dominant |
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Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... |
OMIM:144750 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the wrists, Dela... |
OMIM:600081 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Otospondylomegaepiphyseal Dysplasia |
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Epiphyseal dysplasia, Short metacarpal, Enlarged joints, Sandal gap, Abnormal pelvis bone morphol... |
ORPHA:1427 |
Dyggve-Melchior-Clausen Disease |
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Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Kniest Dysplasia |
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Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif... |
OMIM:156550 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... |
OMIM:119100 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Grant Syndrome |
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Joint dislocation, Bowing of the long bones, Abnormal pelvic girdle bone morphology, Wormian bone... |
ORPHA:2097 |
Acrofacial Dysostosis, RodrÃguez Type |
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Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic girdle bone morphology,... |
ORPHA:1788 |
Osteogenesis Imperfecta, Type V |
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Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Wormian bones, A... |
OMIM:610967 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ... |
OMIM:206920 |
Tibial Hemimelia |
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Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Osteogenesis Imperfecta, Type Ii |
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Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ... |
OMIM:166210 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist... |
OMIM:123000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the wrists, Dela... |
OMIM:241530 |
Caffey Disease |
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Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Femoral-Facial Syndrome |
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Short femur, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Radio... |
ORPHA:1988 |
Osteopetrosis, Autosomal Dominant 2 |
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Hip osteoarthritis, Fractures of the long bones, Abnormal pelvic girdle bone morphology |
OMIM:166600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
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Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the wrists, Dela... |
OMIM:300554 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phal... |
OMIM:601559 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormal fibula morphology, Tibial bowing, Lower limb un... |
ORPHA:3035 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Dent Disease 1 |
|
Enlargement of the ankles, Bulging epiphyses, Bowing of the legs, Enlargement of the wrists, Dela... |
OMIM:300009 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-like metaphyses, Subperioste... |
ORPHA:289157 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Coxa var... |
ORPHA:1452 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Campomelic Dysplasia |
|
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... |
ORPHA:140 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clinodactyly of the... |
OMIM:224690 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... |
OMIM:272460 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Hip dislocation, Flared metaphysis, Cone-shaped ... |
OMIM:309350 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Abnormal pelvic girdle bo... |
OMIM:250250 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon... |
OMIM:610915 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ... |
ORPHA:1328 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |