| Coxa Vara |
|
Coxa vara |
OMIM:122750 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs |
OMIM:613073 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Limita... |
OMIM:619598 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... |
OMIM:611497 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
| Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Short stature, Narrow pe... |
ORPHA:79106 |
| Osteochondrosis Of The Metatarsal Bone |
|
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... |
ORPHA:564003 |
| Tibial Torsion, Bilateral Medial |
|
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs |
OMIM:188800 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... |
OMIM:601376 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... |
ORPHA:566943 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteoscleros... |
OMIM:607634 |
| Sclerosteosis |
|
Diaphyseal thickening, Tall stature, Abnormal cortical bone morphology, Finger syndactyly, Curved... |
ORPHA:3152 |
| Genu Valgum, St. Helena Familial |
|
Genu valgum |
OMIM:137370 |
| Craniodiaphyseal Dysplasia |
|
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia |
OMIM:218300 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... |
OMIM:166740 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
| 12q14 microdeletion syndrome |
|
Proportionate short stature, Osteopoikilosis |
DECIPHER:76 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Bone ... |
OMIM:166600 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... |
ORPHA:3416 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... |
ORPHA:1802 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... |
ORPHA:166119 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Dysplastic Cortical Hyperostosis |
|
Short stature, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morp... |
ORPHA:2204 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Pedal edema, Increased bone mineral density |
ORPHA:75325 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short middle phalanx of finger, Cone-shaped epiphysis, Short stature, Delayed epiphyseal ossifica... |
OMIM:182255 |
| Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit... |
OMIM:142669 |
| Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... |
OMIM:147891 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Abnormality of the epip... |
ORPHA:2114 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Fibula, Recurrent Dislocation Of Head Of |
|
Abnormality of fibula morphology |
OMIM:135800 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis, Abnormality of the metaphysis |
ORPHA:1522 |
| Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Hypodontia, Abno... |
OMIM:265800 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Epiphyseal Dysplasia, Multiple, 3 |
|
Irregular epiphyses, Small epiphyses, Abnormal hip joint morphology, Elevated circulating creatin... |
OMIM:600969 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... |
OMIM:259700 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Genu valgum, Hepato... |
OMIM:259710 |
| Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ... |
ORPHA:1509 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Mild short stature, Avascular necrosis ... |
OMIM:132400 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... |
OMIM:617719 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... |
ORPHA:94089 |
| Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Limited wrist movement, Fibular hyp... |
OMIM:127300 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ... |
OMIM:609324 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia, Coxa valga |
OMIM:613618 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Failure to thrive, Kyp... |
OMIM:614727 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Synophrys, Epicanthus, F... |
ORPHA:3268 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... |
ORPHA:1423 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... |
ORPHA:970 |
| Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... |
ORPHA:53697 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis, Metaphyseal dysplasia |
OMIM:615198 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly |
OMIM:615085 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short stature, Abnormal cortical bone morphology, Pathologic fracture, Sh... |
ORPHA:166277 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Short finger, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Ena... |
OMIM:103580 |
| Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
| Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
| Angioosteohypotrophic Syndrome |
|
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... |
ORPHA:75508 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia... |
OMIM:612462 |
| Albers-Schönberg Osteopetrosis |
|
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Joint dislocation... |
ORPHA:53 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Enlargement of the wrists, Rickets, Metaphyseal irregularity, Hypophosphat... |
OMIM:264700 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Growth delay, Short stature, Osteopetrosis, Anemia, Hyperbilirubinemia, Decreased o... |
OMIM:259720 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Growth delay, Rickets, Bowing of the legs, Metap... |
OMIM:600081 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Calvarial hyperos... |
OMIM:101800 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... |
OMIM:226900 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Hypocalcemic seizures, Enlargement of the wrists, Rickets, Metaphyseal irregularit... |
OMIM:277440 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Growth delay, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
| Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... |
ORPHA:90650 |
| Melorheostosis |
|
Ectopic ossification in muscle tissue, Lower limb asymmetry, Hyperostosis, Arthritis, Increased b... |
ORPHA:2485 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Short stature, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial ... |
OMIM:122860 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Premature loss of primary teeth, Bone cyst, Genu varum, Gait disturbance, Abnormal form of the ve... |
ORPHA:93160 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Malar flatteni... |
OMIM:601559 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Short stature, Osteoporosis, Joint contracture of the hand, Osteopenia, Campt... |
OMIM:264010 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Osteopenia, Dispro... |
OMIM:271530 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Generalized joint laxity, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral ne... |
OMIM:609325 |
| Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... |
OMIM:215045 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Premature loss of teeth, Hydroxyprolinemia, Bowing of the long bones, Osteoporosis, Ky... |
OMIM:239000 |
| Diastrophic Dysplasia |
|
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal form of the vertebral b... |
ORPHA:628 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:612301 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... |
OMIM:300554 |
| Temple Syndrome |
|
Micrognathia, Cleft palate, High palate, Short philtrum, Small for gestational age, Small hand, B... |
OMIM:616222 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, Hip contracture, Pierre-Robin sequence, Short thorax, Pes planus, Sh... |
OMIM:618363 |
| Distal Arthrogryposis Type 1 |
|
Adducted thumb, Rocker bottom foot, Talipes, Ulnar deviation of finger, Overlapping fingers, Camp... |
ORPHA:1146 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, Osteopetrosis, Abnormality of the metaphysis, Coarse metaphyseal trabecularization,... |
ORPHA:2780 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Short nose, Abnormality of cranial sutures, Slender finger, Anisospondyly, Increase... |
ORPHA:163649 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Metaphyseal widening, Osteopetrosis, Hypocalcemia |
OMIM:618476 |
| Hypophosphatemic Bone Disease |
|
Short stature, Bowing of the legs, Rickets, Hypophosphatemia, Osteomalacia |
OMIM:146350 |
| Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... |
ORPHA:2635 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... |
ORPHA:93314 |
| Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
| Brachydactyly Type A2 |
|
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Micrognathia |
OMIM:617306 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... |
OMIM:231095 |
| Developmental Dysplasia Of The Hip 2 |
|
Coxa valga, Arthritis, Hip dysplasia, Hip osteoarthritis |
OMIM:615612 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... |
ORPHA:93307 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Short stature, Rhizomelia, Epiphyseal dyspla... |
ORPHA:166016 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Hypocalcemic seizures, Long philtrum, Patchy osteosclerosis, Small hand, Thin vermi... |
OMIM:241410 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Hypocalcemic seizures, Enlargement of the wrists, Rickets, Hypophosphatemia, Delayed ... |
ORPHA:289157 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary he... |
OMIM:259730 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Joint laxity, Metaphyseal ... |
OMIM:250460 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
| Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
| X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Hypophosphatemia, Reduced bone mineral density, Odontodysplasia, Bowing of t... |
ORPHA:89936 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Laryngotracheoma... |
ORPHA:94068 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation ... |
ORPHA:1525 |
| Sanjad-Sakati Syndrome |
|
Micrognathia, Spinal canal stenosis, Long philtrum, Patchy osteosclerosis, Small hand, Abnormal d... |
ORPHA:2323 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:71289 |
| Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... |
ORPHA:1452 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Tall stature |
OMIM:618406 |
| Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralizati... |
OMIM:307800 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... |
OMIM:190351 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... |
OMIM:184255 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Rickets, Fibrous dysplasia of the bones, Increased circulating cortisol ... |
ORPHA:249 |
| Pseudohypoparathyroidism Type 1C |
|
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Delayed eruption of teeth, Increas... |
ORPHA:79444 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Bowing of the long bones, Osteolysis, Pathologic fracture |
OMIM:174810 |
| Buschke-Ollendorff Syndrome |
|
Cutaneous finger syndactyly, Short stature, Abnormality of epiphysis morphology, Generalized oste... |
ORPHA:1306 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Genu varum, Tibial bowing, Lower limb asymmetry, Short stature, Growth delay, Abnormality of the ... |
ORPHA:289176 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ... |
ORPHA:99642 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the wrists, Rickets, Metaphyseal irregularity, Hypophosphatemia, Femoral bowing, H... |
OMIM:241530 |
| Pycnodysostosis |
|
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Dela... |
ORPHA:763 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... |
ORPHA:85184 |
| Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
| Brachymetatarsus Iv |
|
Short fourth metatarsal, Short 4th toe |
OMIM:113475 |
| Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Long eyelashes in irregular rows, Cleft palate, Hip contracture, Talipes eq... |
ORPHA:800 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Osteogenesis Imperfecta, Type Xiii |
|
Short stature, Osteoporosis, Dislocated radial head, Arachnodactyly, Joint hypermobility, Increas... |
OMIM:614856 |
| Pseudohypoparathyroidism Type 1A |
|
Short 5th metacarpal, Abnormal platelet function, Hypocalcemic seizures, Short metatarsal, Delaye... |
ORPHA:79443 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Short stature, Bowing of the long bones, Abnormal... |
ORPHA:2097 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seiz... |
ORPHA:93325 |
| Dysosteosclerosis |
|
Short stature, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Craniofacial ... |
ORPHA:1782 |
| Rothmund-Thomson Syndrome |
|
Carious teeth, Sparse eyelashes, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, Abnorma... |
ORPHA:2909 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormality of the ulna, Hand oligodactyly, Cleft palate, Abnormal form of the vert... |
ORPHA:3104 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Gnathodiaphyseal Dysplasia |
|
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... |
OMIM:166260 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Femoral-Facial Syndrome |
|
Cleft palate, Talipes equinovarus, Short nose, Thin upper lip vermilion, Abnormality of pelvic gi... |
ORPHA:1988 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, High palate, Short philtrum, Small hand, Joint hypermobility, Hypercholesterolemia,... |
ORPHA:254531 |
| Orofaciodigital Syndrome Type 10 |
|
Accessory oral frenulum, Prominent calcaneus, Telecanthus, Short toe, Radial deviation of the han... |
ORPHA:2756 |
| Aarskog-Scott Syndrome |
|
Cleft palate, Pes planus, Genu recurvatum, Delayed eruption of teeth, Finger syndactyly, Camptoda... |
ORPHA:915 |
| Hypochondroplasia |
|
Genu varum, Aplasia/hypoplasia of the extremities, Limited elbow extension, Abnormality of pelvic... |
OMIM:146000 |
| Wt Limb-Blood Syndrome |
|
Micrognathia, Hypoplastic anemia, Ulnar deviation of thumb, Leukemia, Clinodactyly of the 5th fin... |
OMIM:194350 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Premature loss of teeth, Short philtrum, Multiple sm... |
OMIM:156510 |
| Dysosteosclerosis |
|
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Absent fronta... |
OMIM:224300 |
| Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... |
OMIM:265900 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Smith-Magenis Syndrome |
|
Broad palm, Everted upper lip vermilion, Mandibular prognathia, Synophrys, Velopharyngeal insuffi... |
OMIM:182290 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... |
OMIM:602111 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Ups... |
ORPHA:231226 |
| Microcephaly-Micromelia Syndrome |
|
Abnormality of the hand, Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absen... |
OMIM:251230 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Pectus excavatum, Failure to thrive, Kyphoscoliosis, Supernumerary too... |
OMIM:264475 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Bowing of the legs, Craniosynostosis, Elevated plasma pyrophosphate, Waddling gait... |
OMIM:241510 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... |
ORPHA:1310 |
| Dent Disease 1 |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Short stature, Rickets, Bowing of the legs, Meta... |
OMIM:300009 |
| Slc35A2-Cdg |
|
Metatarsus adductus, Limb joint contracture, Increased circulating thyroglobulin level, Intrauter... |
ORPHA:356961 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... |
OMIM:609052 |
| Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... |
ORPHA:1798 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Tall stature, Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger... |
OMIM:615923 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer flask de... |
OMIM:610539 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Hypocalcemia, Obesity, Hyperphosphatemia, Brachydactyly |
OMIM:603233 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... |
ORPHA:440354 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Laron Syndrome |
|
Micrognathia, Microdontia, Abnormality of the elbow, Delayed eruption of teeth, Truncal obesity, ... |
ORPHA:633 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Short philtrum, Talipes equinovarus, Small for gestational age, Failure to t... |
OMIM:607143 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Long thorax, Small for gestational age, Failure to thrive, Cubitus valgus, Slender build, Disharm... |
OMIM:608154 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Broad palm, Gait distur... |
ORPHA:93351 |
| Megalocornea-Intellectual Disability Syndrome |
|
Micrognathia, Genu varum, High palate, Short philtrum, Tapered finger, Epicanthus, Downslanted pa... |
ORPHA:2479 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Short stature, Abnormal cortical bone morphology, Slender long bone, Limitation of ... |
ORPHA:1486 |
| Epiphyseal Dysplasia, Baumann Type |
|
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... |
OMIM:610797 |
| Acrootoocular Syndrome |
|
Prominent calcaneus, Delayed eruption of teeth, Short toe, Micrognathia, Epicanthus, Downslanted ... |
ORPHA:2980 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Bowing of the legs, Hypophosphatemia, Osteopenia, Hypocalcemia, Flared metaphysis, Me... |
OMIM:619073 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... |
ORPHA:93409 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... |
OMIM:201170 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Rickets, Abnormality of the lower limb, Hypophosphatemia, Osteomalacia, Hypophosph... |
OMIM:193100 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Micrognathia, Metaphyseal cupping, Hip contracture, Bowing of the long bones, Toot... |
OMIM:156400 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormal facility in opposing the shoulders, Malar flattening, Aplastic clavicle, A... |
OMIM:119600 |
| Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... |
ORPHA:37748 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Talipes equinovarus, Thin upper lip vermili... |
OMIM:611209 |
| Monosomy 5P |
|
Intrauterine growth retardation, Short stature, Abnormality of bone mineral density, Small hand, ... |
ORPHA:281 |
| Cohen Syndrome |
|
Neutropenia, Short metatarsal, Cubitus valgus, Pes planus, Thoracic scoliosis, Hypoplasia of the ... |
OMIM:216550 |
| Opsismodysplasia |
|
Metaphyseal cupping, Anterior rib cupping, Long philtrum, Hypoplastic vertebral bodies, Rhizomeli... |
OMIM:258480 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
| Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... |
ORPHA:1801 |
| Trisomy 4P |
|
Carious teeth, Abnormal palate morphology, Smooth philtrum, Radial club hand, Abnormality of the ... |
ORPHA:1738 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Micrognathia, Shortening of all phalanges of fingers, High palate, Cone-shaped epiphysis, Long up... |
ORPHA:77258 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Intrauterine growth retardation, Short stature, Slender build, Osteopenia, Slender long bones wit... |
ORPHA:50811 |
| Pseudopseudohypoparathyroidism |
|
Short 5th metacarpal, Intrauterine growth retardation, Short stature, Short metatarsal, Short 5th... |
ORPHA:79445 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Abnormal palate morphology, Talipes, Long philtrum, Avascular necrosis of the capital femoral epi... |
ORPHA:502 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flat capital femoral epiphysis, Tapered finger, Abnormality of the metaphysis, Osteopenia, Modera... |
ORPHA:157965 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Metaphyseal Anadysplasia |
|
Abnormality of the ulna, Abnormality of epiphysis morphology, Abnormality of the lower limb, Bowi... |
ORPHA:1040 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Iron deficiency anemia, Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia... |
ORPHA:89937 |
| Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral den... |
OMIM:619489 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Shor... |
OMIM:619638 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... |
ORPHA:1952 |
| Mucopolysaccharidosis Type 4 |
|
Carious teeth, Abnormal dental enamel morphology, Short thorax, Reduced bone mineral density, Gai... |
ORPHA:582 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micrognathia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter, Limb u... |
OMIM:616897 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Micrognathia, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Bowin... |
ORPHA:93267 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... |
OMIM:300106 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... |
OMIM:619636 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... |
ORPHA:85435 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormality of the metaphysis, Reduced bone miner... |
ORPHA:2370 |
| Greenberg Dysplasia |
|
Omphalocele, Epiphyseal stippling, Malar flattening, Abnormal bone structure, Supernumerary verte... |
OMIM:215140 |
| Desmosterolosis |
|
Metatarsus adductus, Micrognathia, Intrauterine growth retardation, Growth delay, Talipes, Osteop... |
ORPHA:35107 |
| Megalocornea-Mental Retardation Syndrome |
|
Micrognathia, High palate, Long philtrum, Pes valgus, Epicanthus, Arachnodactyly, Genu recurvatum... |
OMIM:249310 |
| Atelosteogenesis Type I |
|
Micrognathia, Absent or minimally ossified vertebral bodies, Talipes equinovarus, Neonatal short-... |
ORPHA:1190 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Cleft palate, Telecanthus, Pes planus, Splenomegaly, Anterior open-bite malocclusi... |
ORPHA:3473 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Achilles tendon calcification, Calvarial osteosclerosis, Osteopenia, Metacarpal pe... |
OMIM:617994 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... |
OMIM:171480 |
| Mandibuloacral Dysplasia |
|
Micrognathia, Short clavicles, High palate, Loss of subcutaneous adipose tissue in limbs, Reduced... |
ORPHA:2457 |
| Lichtenstein Syndrome |
|
Carious teeth, C1-C2 subluxation, Pectus excavatum, Neutropenia, Ulnar deviation of finger, Synop... |
OMIM:246550 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Short... |
OMIM:170390 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Micrognathia, Sparse eyelashes, Thin eyebrow, Oligodontia, Sparse lateral ey... |
ORPHA:1787 |
| Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Abnormal foot morphology, Osteolytic defects of the middle p... |
OMIM:259610 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Congenital hip disloca... |
ORPHA:93333 |
| Microphthalmia With Limb Anomalies |
|
Cleft palate, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Syno... |
ORPHA:1106 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Spinal canal stenosis, Hypoplasia of the nasal bone, Cone-shaped epiphysis, Mandibular prognathia... |
ORPHA:280651 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Small for gestational age, Delayed closure... |
OMIM:127000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Osteopetrosis, Symphalangism affecting the phalanges of the hand, Aplastic clavi... |
ORPHA:2658 |
| Orofaciodigital Syndrome Viii |
|
Cleft palate, High palate, Polydactyly, Telecanthus, Syndactyly, Median cleft lip, Short tibia |
OMIM:300484 |
| Hypophosphatasia |
|
Hypercalcemia, Failure to thrive in infancy, Bowing of the long bones, Craniosynostosis, Anemia, ... |
ORPHA:436 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Knee dislocation, Micrognathia, Tibial bowing, Radial bowing, Talip... |
OMIM:108721 |
| Boomerang Dysplasia |
|
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality ... |
ORPHA:1263 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Growth delay, Short stature, Bowing of the legs, Hypophosphatemia, Reduced bone mineral density, ... |
ORPHA:157215 |
| Fanconi Renotubular Syndrome 3 |
|
Growth delay, Bowing of the legs, Short stature, Rickets |
OMIM:615605 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Epiphyseal stippling, Prominen... |
ORPHA:96334 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
| Ck Syndrome |
|
Micrognathia, Slender build, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... |
OMIM:300831 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... |
OMIM:223800 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Incr... |
ORPHA:90652 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... |
OMIM:112450 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Mic... |
OMIM:210720 |
| Smith-Magenis Syndrome |
|
Cleft palate, Abnormal form of the vertebral bodies, Short nose, Pes planus, Hand polydactyly, To... |
ORPHA:819 |
| Omodysplasia 1 |
|
Limited elbow flexion, Short nose, Malar flattening, Increased fibular diameter, Limited elbow ex... |
OMIM:258315 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Omphalocele, Cleft palate, Undulate clavicles, Short metatarsal, Ma... |
OMIM:304120 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Cleft palate, High palate, Short philtrum, Small for gestational age, Small hand, B... |
ORPHA:96184 |
| Raine Syndrome |
|
Cleft palate, Short nose, Malar flattening, Hypophosphatemia, Long hallux, Increased bone mineral... |
OMIM:259775 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Shield chest, Talipes equinovarus, Cubitus valgus, Pes planus, Delayed eruption of teeth, Deviati... |
OMIM:143095 |
| Langer Mesomelic Dysplasia |
|
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... |
ORPHA:2632 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Cleft palate, Talipes equinovarus, Long upper lip, Limited elbow extension, Elbow flexion contrac... |
ORPHA:93359 |
| Coxoauricular Syndrome |
|
Abnormality of femur morphology, Short stature, Reduced bone mineral density, Hip dislocation, Ab... |
ORPHA:1508 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Cleft palate, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... |
ORPHA:3320 |
| Acrodysostosis |
|
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Abnormal form of the vertebral b... |
ORPHA:950 |
| Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... |
ORPHA:73 |
| Pallister W Syndrome |
|
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Cubitus valgus, Telecanthus, Joi... |
OMIM:311450 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Long clavicles, Thin clavicles, Thin ribs, Delayed closure of the anterior fontane... |
OMIM:244460 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Abnormal palate morphology, Micrognathia, Radial club hand, Short metatarsal, Wide nasal bridge, ... |
ORPHA:1278 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Short nose, Proximal placement ... |
OMIM:609945 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Cleft palate, High palate, Pectus excavatum, Hamartoma of tongue, P... |
OMIM:258860 |
| Mohr Syndrome |
|
Cleft palate, Metaphyseal irregularity, Malar flattening, Accessory oral frenulum, Telecanthus, S... |
OMIM:252100 |
| Blomstrand Lethal Chondrodysplasia |
|
Short nose, Malar flattening, Distal shortening of limbs, Aplastic clavicle, Short ribs, Synostos... |
ORPHA:50945 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Malar flattening, Telecanthus, Short toe, Short humerus, Short phalanx of finger, Con... |
OMIM:250215 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Abnormality of epiphysis morphology, Downslanted palpebral fissures, Enamel hypoplas... |
ORPHA:2643 |
| Cohen Syndrome |
|
Neutropenia, Cubitus valgus, Aplasia/Hypoplasia of the tongue, Finger syndactyly, Hypoplasia of t... |
ORPHA:193 |
| Atelosteogenesis Type Iii |
|
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... |
ORPHA:56305 |
| Camurati-Engelmann Disease |
|
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Slender build, ... |
OMIM:131300 |
| Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Cleft palate, Talipes equinovarus, Malar flattening, Joint contracture of the hand... |
OMIM:600920 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower lim... |
ORPHA:3035 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
| Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Tooth malposition, Anemia, A... |
OMIM:617475 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Cortical thickening of long bone diaphyses, Thin clavicles, Hypocalcemic tetany, T... |
ORPHA:93324 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Wrist swelling, Metatarsal osteolysis, Ulnar deviation of the hand, Ankle swelling,... |
OMIM:166300 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Supernumerary tooth, Delayed eruption of tee... |
OMIM:614188 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... |
ORPHA:239 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Supernumerary ribs, Retrognathia, Abnorma... |
ORPHA:2958 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Abnormality of epiphysis morphology, Osteopetrosis, Craniosynostosis, Bowing of the... |
ORPHA:667 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... |
OMIM:615631 |
| Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... |
ORPHA:439822 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Broad tibial metaphyses, Childhood-onset short-trunk short... |
OMIM:271630 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... |
ORPHA:397973 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Craniosynostosis |
OMIM:218550 |
| Atelosteogenesis, Type Ii |
|
Short greater sciatic notch, Short middle phalanx of finger, Increased intervertebral space, Tali... |
OMIM:256050 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Telecanthus, Splenomegaly, Pectus carinatum, Epicanthus, Acetabular dysplasia, Hypoa... |
OMIM:617303 |
| Autosomal Recessive Primary Microcephaly |
|
Growth delay, Abnormal cortical bone morphology, Short stature |
ORPHA:2512 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Short clavicles, Tapered finger, Mandibular prognathia, Small hand, Hyperc... |
ORPHA:401923 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula... |
ORPHA:958 |
| Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... |
ORPHA:3352 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... |
ORPHA:168549 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Neutropenia, Abnormal form of the vertebral bodies, Short thorax, Limited ... |
ORPHA:175 |
| Osteogenesis Imperfecta, Type Xiv |
|
Short stature, Increased susceptibility to fractures, Osteopenia, Femoral bowing, Recurrent fract... |
OMIM:615066 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Diaphyseal thickening, Wide nasal bridge, Abnormal rib morphology |
ORPHA:1513 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Micrognathia, Pectus excavatum, Ptosis, Abnormal clavicle morphology, Abnormal reticulocyte morph... |
ORPHA:2522 |
| Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Fla... |
OMIM:211350 |
| Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Short nose, Finger syndactyly, Camptodactyly of finger, Vertebral segmentat... |
ORPHA:1507 |
| Autosomal Dominant Robinow Syndrome |
|
Oligodontia, Abnormal form of the vertebral bodies, Curly eyelashes, Short nose, Finger syndactyl... |
ORPHA:3107 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits, Pulp calcification, Calcinosis, Hyperostosis, Taurodonti... |
OMIM:211900 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short thorax, Delayed eruption of teeth, Anisospondyly, Delayed cranial suture closu... |
ORPHA:2484 |
| Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... |
ORPHA:56304 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... |
OMIM:224120 |
| Seckel Syndrome 1 |
|
Cleft palate, Pes planus, 11 pairs of ribs, Pancytopenia, Elbow flexion contracture, Cone-shaped ... |
OMIM:210600 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... |
ORPHA:363417 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Micrognathia, 2-3 toe syndactyly, Radial bowing, Thoracic hypop... |
OMIM:617866 |
| Mosaic Trisomy 14 |
|
Micrognathia, Cleft palate, High palate, Lower limb asymmetry, Wide mouth, Ptosis, Failure to thr... |
ORPHA:1703 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elb... |
ORPHA:1350 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Pes planus, Delayed eruption of teeth, Protrusio acetabuli, H... |
OMIM:259600 |
| Linear Verrucous Nevus Syndrome |
|
Toe syndactyly, Talipes, Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Short m... |
ORPHA:2611 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Increased bone mineral density, H... |
ORPHA:36913 |
| Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Malar flattening, Abnormal dental enamel morphology, Hypop... |
ORPHA:3258 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610947 |
| Maxillonasal Dysplasia |
|
Cleft palate, Microdontia, Open bite, Mandibular prognathia, Short nose, Patchy distortion of ver... |
ORPHA:1248 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai... |
ORPHA:166011 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... |
OMIM:608728 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... |
ORPHA:1159 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Joint dislocation, Obesity, Recurrent fractures, Abnormal hip bone morphology, Scoliosis, Hyperph... |
ORPHA:457059 |
| Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Flaring of rib ca... |
OMIM:253000 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Micrognathia, Cleft palate, Smooth philtrum, High palate, Pectus excavatum, Kyphos... |
OMIM:618348 |
| Osteogenesis Imperfecta, Type V |
|
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Wormian b... |
OMIM:610967 |
| Senior-Loken Syndrome |
|
Abnormality of bone mineral density, Cone-shaped epiphysis, Short stature |
ORPHA:3156 |
| Familial Osteodysplasia, Anderson Type |
|
Carious teeth, Failure of eruption of permanent teeth, Abnormal form of the vertebral bodies, Mal... |
ORPHA:2769 |
| Majeed Syndrome |
|
Leukocytosis, Synovitis, Hypochromic microcytic anemia, Increased susceptibility to fractures, Me... |
ORPHA:77297 |
| Atelosteogenesis, Type I |
|
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Short nose, Malar fla... |
OMIM:108720 |
| Carpenter Syndrome 1 |
|
Omphalocele, Genu varum, Malar flattening, Joint contracture of the hand, Telecanthus, Deviation ... |
OMIM:201000 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
