Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands |
ORPHA:50811 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e... |
OMIM:265900 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s... |
ORPHA:2635 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:241530 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Sho... |
OMIM:608154 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing |
OMIM:615066 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,... |
ORPHA:85435 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormally ossified vertebrae, Abnormal pelvis bone m... |
ORPHA:166119 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine... |
OMIM:619489 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... |
ORPHA:2484 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... |
OMIM:609220 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Abnormal fibula morpholog... |
ORPHA:3035 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ... |
ORPHA:2774 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing |
ORPHA:2768 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... |
OMIM:608940 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... |
OMIM:166210 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... |
OMIM:156550 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Mic... |
ORPHA:3206 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... |
OMIM:613848 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... |
OMIM:602080 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormally ossified vertebrae, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... |
ORPHA:249 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... |
ORPHA:221008 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Triangular shaped distal phalanges of the hand, Hyperostosis, Abnormal diap... |
ORPHA:73230 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Small hand, Osteoporosis, Osteolysis, Clubbing of to... |
ORPHA:2796 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Slender long bone, Decreased calvarial ossification, Arthrogryposis multiplex c... |
OMIM:618265 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... |
OMIM:166220 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... |
OMIM:231070 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... |
ORPHA:2769 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossification, Calvarial os... |
OMIM:244460 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... |
OMIM:620083 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Slender long bone, Joint hyperflexibility, Reduced bone mineral density |
ORPHA:1185 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... |
OMIM:166200 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Hallux valgus, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,... |
ORPHA:536467 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal... |
ORPHA:536471 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat... |
ORPHA:93315 |
Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... |
OMIM:620076 |
Gm1-Gangliosidosis, Type Ii |
|
Limb undergrowth, Joint stiffness, Thin bony cortex, Coxa valga |
OMIM:230600 |
Gracile Bone Dysplasia |
|
Slender long bone, Decreased skull ossification, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Shox-Related Short Stature |
|
Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth, Ulnar radial... |
ORPHA:314795 |
Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density |
ORPHA:935 |
Stuve-Wiedemann Syndrome 1 |
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Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of finger, Os... |
OMIM:601559 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Abnormal cortical bone morphology |
OMIM:614886 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Weill-Marchesani Syndrome 1 |
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Joint stiffness, Broad metatarsal, Broad phalanges of the hand, Broad metacarpals, Thin bony cort... |
OMIM:277600 |
Frank-Ter Haar Syndrome |
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Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... |
OMIM:249420 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... |
OMIM:271640 |
Spondyloocular Syndrome |
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Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... |
OMIM:605822 |
Atelosteogenesis, Type Iii |
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Radial bowing, Rhizomelia, Sandal gap, Tombstone-shaped proximal phalanges, Widened distal phalan... |
OMIM:108721 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Osteogenesis Imperfecta |
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Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... |
ORPHA:666 |
Cartilage-Hair Hypoplasia |
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Metaphyseal dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Rhizomelia, Abnor... |
ORPHA:175 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o... |
OMIM:210730 |
Weill-Marchesani Syndrome 2 |
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Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... |
OMIM:608328 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Premature Aging Syndrome, Penttinen Type |
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Brachydactyly, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, Slender long bone, O... |
OMIM:601812 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... |
OMIM:143095 |
Atelosteogenesis, Type I |
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Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... |
ORPHA:3472 |
Microphthalmia With Limb Anomalies |
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Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Martsolf Syndrome 1 |
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Joint laxity, Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata... |
OMIM:212720 |
Campomelic Dysplasia |
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Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Melnick-Needles Syndrome |
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Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ... |
OMIM:309350 |
Mesomelia-Synostoses Syndrome |
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Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, S... |
OMIM:304120 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Aspartylglucosaminuria |
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Arthritis, Abnormal cortical bone morphology, Abnormal morphology of ulna, Joint stiffness |
ORPHA:93 |
Wrinkly Skin Syndrome |
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Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Slender long bones w... |
ORPHA:2834 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |