| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Joint stiffness, Osteopoikilosis |
OMIM:166700 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis, Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis m... |
ORPHA:2501 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Gnathodiaphyseal Dysplasia |
|
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... |
ORPHA:53697 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... |
ORPHA:564003 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Rhizomelia, Flattened epip... |
ORPHA:166016 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... |
ORPHA:1802 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density |
OMIM:259660 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... |
OMIM:271530 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Melorheostosis |
|
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... |
ORPHA:2485 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... |
ORPHA:2790 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Eiken Syndrome |
|
Cubitus valgus, Abnormal bone ossification, Delayed epiphyseal ossification, Short phalanx of fin... |
ORPHA:79106 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral... |
ORPHA:2114 |
| Craniodiaphyseal Dysplasia |
|
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
| Bruck Syndrome 1 |
|
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... |
OMIM:259450 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Wormian bones, Abnormality of the knee, Osteolysis, Hyperlordosis, Abnormali... |
ORPHA:970 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... |
ORPHA:1952 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... |
ORPHA:93315 |
| Fibular Hemimelia |
|
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... |
ORPHA:93323 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Joint laxity, Kyphosis, Increased susceptibility to fractures, Congenital bilateral hi... |
OMIM:130060 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
ORPHA:750 |
| Metatropic Dysplasia |
|
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... |
ORPHA:2635 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... |
ORPHA:40 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures |
OMIM:256720 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Hip dysplasia, Ulnar... |
ORPHA:174 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... |
ORPHA:3344 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density |
OMIM:241520 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... |
ORPHA:2779 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
| Metaphyseal Dysplasia, Spahr Type |
|
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal dysplasia, Waddling... |
OMIM:250400 |
| Solitary Bone Cyst |
|
Prominent calcaneus, Abnormal ilium morphology, Abnormality of tibia morphology, Abnormal form of... |
ORPHA:83468 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Dislocated radial head, Limited elbow extension, Platyspondyly, Hip dysplasia, Joint l... |
ORPHA:93359 |
| Monosomy 5P |
|
Scoliosis, Finger syndactyly, Joint hyperflexibility, Recurrent fractures, Small hand, Abnormalit... |
ORPHA:281 |
| Mazabraud Syndrome |
|
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Parastremmatic Dwarfism |
|
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck |
OMIM:168400 |
| Distal Osteosclerosis |
|
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:126250 |
| Metatropic Dysplasia |
|
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... |
OMIM:156530 |
| Osteogenesis Imperfecta, Type V |
|
Wormian bones, Joint hypermobility, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... |
OMIM:610967 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Delayed epiphyseal ossification, Short phalanx of finger, Generalized joint laxity, ... |
OMIM:132400 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Delayed epiphyseal ossificatio... |
OMIM:600785 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Metaphyseal Anadysplasia |
|
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1040 |
| Osteogenesis Imperfecta, Type Xiv |
|
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Osteopenia, Femoral bowing |
OMIM:615066 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
OMIM:177170 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... |
OMIM:600081 |
| Hypochondroplasia |
|
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Abnormal form of the vertebral bodies,... |
ORPHA:429 |
| Osteogenesis Imperfecta, Type Xix |
|
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Osteopenia, Vertebral wed... |
OMIM:301014 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged interphalangeal joints, Joint swelling, Joint stiffness, Waddling gait, Osteoarthritis, ... |
OMIM:208230 |
| Isolated Osteopoikilosis |
|
Generalized osteosclerosis |
ORPHA:166119 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Gait distur... |
ORPHA:93160 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bo... |
ORPHA:210110 |
| Acrocapitofemoral Dysplasia |
|
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... |
OMIM:607778 |
| Bruck Syndrome |
|
Osteoporosis, Wormian bones, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphos... |
ORPHA:2771 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... |
OMIM:144750 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Gnathodiaphyseal Dysplasia |
|
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... |
OMIM:166260 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Wormian bones, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fr... |
OMIM:259440 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity |
OMIM:264010 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... |
ORPHA:1159 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Hip dysplasia, Genu valgum, Finger joint hypermobility, Knee pain, Gait disturbance, Avascular ne... |
ORPHA:93308 |
| Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Limitation of movement at ankles, Abnormality of the os navicula... |
ORPHA:566943 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... |
OMIM:601376 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... |
OMIM:617974 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... |
ORPHA:1972 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... |
OMIM:200700 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... |
ORPHA:240 |
| Bruck Syndrome 2 |
|
Wormian bones, Platyspondyly, Flexion contracture, Osteopenia, Pterygium, Increased susceptibilit... |
OMIM:609220 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... |
OMIM:184255 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Platyspondyly, Pulmonary insufficiency, Broad long bones, Recurrent fractures, Abs... |
OMIM:166210 |
| Tibial Torsion, Bilateral Medial |
|
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... |
OMIM:201250 |
| Leri-Weill Dyschondrosteosis |
|
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... |
OMIM:127300 |
| Ck Syndrome |
|
Scoliosis, Joint hypermobility, Hyperlordosis, Kyphosis, Abnormal cortical bone morphology, Abnor... |
OMIM:300831 |
| Familial Expansile Osteolysis |
|
Osteolysis, Bowing of the long bones, Bone pain, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... |
OMIM:617719 |
| Osteogenesis Imperfecta, Type Xxi |
|
Osteoporosis, Wormian bones, Joint hypermobility, Scoliosis, Platyspondyly, Recurrent fractures, ... |
OMIM:619131 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Craniosynostosis, Femur fracture, Osteopetrosis, Facial paralysis, Increased bone m... |
OMIM:259700 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... |
OMIM:166600 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Decreased calvarial os... |
OMIM:259420 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... |
OMIM:112910 |
| Osteogenesis Imperfecta, Type Xi |
|
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... |
OMIM:610968 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal form of the vertebral bodies, Abnormality of the elbow, Recurrent fractures, Abnormal co... |
ORPHA:1486 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... |
ORPHA:166277 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... |
OMIM:231070 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Wormian bones, Osteoporosis, Joint laxity, Loss of ability... |
ORPHA:2788 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... |
OMIM:118651 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Accelerated skeletal maturation, Abnormality of femur morphology, Bowing of the long b... |
ORPHA:1240 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... |
OMIM:241530 |
| Multiple Osteochondromas |
|
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Elbow disloca... |
ORPHA:321 |
| Osteogenesis Imperfecta, Type Iv |
|
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... |
OMIM:166220 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia, Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized ... |
ORPHA:53 |
| Diastrophic Dwarfism |
|
Scoliosis, Camptodactyly of finger, Hip dysplasia, Hypoplastic cervical vertebrae, Elbow dislocat... |
ORPHA:628 |
| Dysplasia Epiphysealis Hemimelica |
|
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphol... |
ORPHA:1822 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Gait disturbance, Recurrent fractures, Bone pain, Increased spinal bone density, Spastic gait |
ORPHA:329475 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Waddling gait |
OMIM:618392 |
| Mycetoma |
|
Abnormality of the knee, Osteoporosis, Abnormal form of the vertebral bodies, Bone cyst, Back pai... |
ORPHA:2583 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Kyphosis, Gait disturbance, Recurrent fractures, Bone pain, Vertebral compression f... |
ORPHA:85193 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Limited elbow extension, Platyspondyly, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac... |
OMIM:608728 |
| Blount Disease, Adolescent |
|
Bowing of the legs, Osteochondritis Dissecans, Genu varum |
OMIM:259200 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... |
ORPHA:90650 |
| Gorham-Stout Disease |
|
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... |
ORPHA:73 |
| Brachyolmia Type 1, Toledo Type |
|
Squared-off platyspondyly, Broad tibial metaphyses, Gait disturbance, Back pain, Irregular verteb... |
OMIM:271630 |
| Pelger-Huet Anomaly |
|
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Ab... |
OMIM:169400 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... |
OMIM:609223 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Abnormal cortical bone ... |
ORPHA:1525 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Hypophosphatasia, Adult |
|
Chondrocalcinosis, Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased sus... |
OMIM:146300 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... |
OMIM:300554 |
| Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa ... |
OMIM:613982 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Clinodactyly of the 5th finger |
OMIM:618453 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Irregular epiphyses, Epiphyseal dysplasia, Waddling gait, Flattened epiphysis, Genu varum, Knee o... |
OMIM:600204 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Enlarged joints, Short finger, Kyphosis, Sclerosis of skull base, Thoracolumbar sc... |
OMIM:313420 |
| Osteogenesis Imperfecta, Type Xviii |
|
Wormian bones, Joint hypermobility, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... |
OMIM:617952 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... |
ORPHA:2619 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Bulging epiphyses, Subperiosteal bone resorption, Delayed epiphyseal o... |
OMIM:264700 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... |
ORPHA:93284 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Osteoporosis, Enlarged joints, Joint laxity, Recurrent fractures, Epiphyseal dysplasia |
OMIM:248010 |
| Urban-Rogers-Meyer Syndrome |
|
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of epiphysis morph... |
ORPHA:3409 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... |
ORPHA:166011 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... |
OMIM:183849 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Bulging epiphyses, Subperiosteal bone resorption, Delayed epiphyseal o... |
OMIM:277440 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... |
OMIM:607326 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Platyspondyly, Scoliosis, Recurrent fractures, Osteopenia, Femoral bowing |
OMIM:126550 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Synostosis of... |
ORPHA:93351 |
| Achondroplasia |
|
Limited elbow extension, Limited hip extension, Generalized joint laxity, Trident hand, Rhizomeli... |
OMIM:100800 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Elbow dislocation, Abnormality of epiphysis morphology, Abnormal metacar... |
ORPHA:2631 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Posterior scallopi... |
OMIM:603546 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Thrombocyto... |
ORPHA:2785 |
| Lichtenstein Syndrome |
|
Osteoporosis, Increased susceptibility to fractures, Metacarpophalangeal joint contracture, Ulnar... |
OMIM:246550 |
| Grant Syndrome |
|
Wormian bones, Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones... |
ORPHA:2097 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Abnormality of long bone morphology, Osteolysis, Abnormality of the vertebral colu... |
ORPHA:52430 |
| Dysspondyloenchondromatosis |
|
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... |
ORPHA:85198 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... |
OMIM:249700 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Abnormality of epiphysis morphology, Joint ... |
ORPHA:582 |
| Osteogenesis Imperfecta, Type Viii |
|
Radial bowing, Wormian bones, Scoliosis, Platyspondyly, Joint laxity, Kyphosis, Recurrent fractur... |
OMIM:610915 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Fractures of the long bones, Patchy osteosclerosis |
OMIM:167250 |
| Caffey Disease |
|
Scoliosis, Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyse... |
ORPHA:1310 |
| Pyle Disease |
|
Scoliosis, Genu valgum, Limited elbow extension, Platyspondyly, Reduced bone mineral density, Met... |
OMIM:265900 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Subperiosteal bone resorption, Delayed epiphyseal ossification, Ricket... |
ORPHA:289157 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... |
ORPHA:93360 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Facial paralysis, ... |
OMIM:259710 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... |
OMIM:251450 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... |
OMIM:184252 |
| Caffey Disease |
|
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones |
OMIM:114000 |
| Geroderma Osteodysplastica |
|
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebra... |
ORPHA:2078 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Ca... |
OMIM:269920 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Genu valgum, Hyperlordosis, Accelerated skeletal maturation, Coronal cleft vertebrae, ... |
OMIM:618363 |
| Dysosteosclerosis |
|
Platyspondyly, Delayed closure of the anterior fontanelle, Sclerosis of hand bone, Progressive bo... |
OMIM:224300 |
| Paget Disease Of Bone 2, Early-Onset |
|
Osteolysis, Bowing of the long bones, Bone pain, Increased susceptibility to fractures, Fractures... |
OMIM:602080 |
| Schnitzler Syndrome |
|
Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy... |
ORPHA:37748 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Oncogenic Osteomalacia |
|
Abnormality of the tarsal bones, Abnormal vertebral morphology, Abnormal pelvis bone morphology, ... |
ORPHA:352540 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Hyperostosis,... |
OMIM:604922 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Failure to thrive |
OMIM:615085 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... |
OMIM:615923 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Abnormal hip joint morphology, Joint stiffness, Arthralgia of the hip, Hip dysplasia, Genu valgum... |
ORPHA:93311 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limited elbow extension, Enlarged joints, Limb undergrowth, Lumbar hyperlordosis, Bowing of the l... |
ORPHA:156728 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... |
OMIM:222600 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Metaphyseal irregularity, Delayed ossification of carpal bones, Irregular epiphyses,... |
OMIM:607078 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... |
OMIM:609813 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Calvarial hyperostos... |
OMIM:112350 |
| Bethlem Myopathy 2 |
|
Hip dislocation, Flexion contracture, Joint laxity, Kyphosis |
OMIM:616471 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Bone pain, Tibi... |
OMIM:307800 |
| Melnick-Needles Syndrome |
|
Scoliosis, Anisospondyly, Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long b... |
ORPHA:2484 |
| Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Rhizomelia, Retinal degeneration, Coxa vara, Narrow gr... |
OMIM:602271 |
| Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Joint hypermobility, Decreased body weight, Increased bone mineral density |
OMIM:614856 |
| Pycnodysostosis |
|
Hyperlordosis, Wormian bones, Osteolysis, Abnormality of the vertebral column, Abnormal vertebral... |
ORPHA:763 |
| Osteosarcoma |
|
Osteolysis, Joint swelling, Abnormality of the femoral metaphysis, Abnormality of the tibial meta... |
ORPHA:668 |
| Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity |
OMIM:613073 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... |
ORPHA:1505 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal irregularity, Abnormality of the vertebral column, Metaphyseal cupping ... |
OMIM:250460 |
| Stuve-Wiedemann Syndrome |
|
Scoliosis, Short phalanx of finger, Pathologic fracture, Pulmonary arterial hypertension, Short n... |
OMIM:601559 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis |
OMIM:215045 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... |
ORPHA:93352 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Facial palsy... |
OMIM:611490 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... |
OMIM:616583 |
| Kyphomelic Dysplasia |
|
Abnormal form of the vertebral bodies, Bowing of the long bones, Large hands, Flat acetabular roo... |
ORPHA:1801 |
| Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Abnormality of epiphysis morphology, Abnormal bone structure, Flexion contractu... |
ORPHA:1306 |
| Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Scoliosis, Hip dysplasia, Hypoplasia of the femoral head, Limited elbow flexion, Epiphyseal dyspl... |
OMIM:226900 |
| Marshall-Smith Syndrome |
|
Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Joint hyperflexibility, Bowing of t... |
ORPHA:561 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Craniosynostosis, Intracranial hemorrhage, Decreased calvarial ossification, Metap... |
OMIM:241500 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Bone cyst, Pathologic fracture, Gait disturbance |
OMIM:618193 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Rod-cone dystrophy, Vacuolated lymphocytes |
OMIM:609055 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Abnormality of the knee, Osteoporosis, Platyspondyly, Metaphyseal irregularity, Difficulty walkin... |
ORPHA:319195 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Genu valgum, Elbow dislocation, Joint hyperflexibility, Gait disturbance, Limb und... |
ORPHA:1803 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Recurrent fractures, Irregular vertebral endplates, Inc... |
ORPHA:1782 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis, Scoliosis, Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
| Metachondromatosis |
|
Bowing of the long bones, Abnormal joint morphology |
OMIM:156250 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Hip dysplasia, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... |
ORPHA:2370 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Sandal gap, Abnormal ... |
ORPHA:2725 |
| Dent Disease 1 |
|
Enlargement of the ankles, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... |
OMIM:300009 |
| Czech Dysplasia |
|
Scoliosis, Platyspondyly, Short metatarsal, Thoracic kyphosis, Flexion contracture, Narrow iliac ... |
OMIM:609162 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteoporosis, Arthropathy, Sclerotic cranial sutures, Osteolysis, Abnormal form of the vertebral ... |
ORPHA:371428 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Micrognathia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Panc... |
OMIM:259720 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, Double-laye... |
ORPHA:93307 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Flat acetabular roof, Waddling gait, Small epiphyses, Short femoral neck, Short neck, ... |
ORPHA:94068 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Decreas... |
ORPHA:93267 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Juvenile Paget Disease |
|
Osteoporosis, Bowing of the long bones, Recurrent fractures, Hypertension, Coarse metaphyseal tra... |
ORPHA:2801 |
| Familial Osteodysplasia, Anderson Type |
|
Scoliosis, Elbow dislocation, Abnormal form of the vertebral bodies, Kyphosis, Recurrent fracture... |
ORPHA:2769 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wormian bones, Overtubulated long bones, Increased bone mineral density, Abnormal diaphysis morph... |
ORPHA:85184 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Hip contracture, Knee fle... |
OMIM:600175 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis, Difficulty walking |
OMIM:617087 |
| Ulnar Hemimelia |
|
Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of 3rd finger,... |
ORPHA:93320 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... |
OMIM:618728 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Abnormality of epiphysis morphology, Kyph... |
ORPHA:93314 |
| Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Osteopenia, Down-sloping shoulders, Recurrent fractures |
ORPHA:91133 |
| Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Gait disturbance, Slender long bone, Reduced bone mineral density, Join... |
ORPHA:262 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure |
ORPHA:46532 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Inability to walk, Dystonia, Kyphosis, Ataxia, Lumbar hyperlordosis, Waddling gait, Ta... |
OMIM:616756 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Scoliosis, Joint hypermobility, Recurrent fractures, Reduced bone mineral density, Recurrent join... |
OMIM:619115 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of long bone morphology, Craniosynostosis, Hip subluxation, ... |
ORPHA:356961 |
| Alpha-Mannosidosis |
|
Scoliosis, Hip dysplasia, Synostosis of joints, Craniofacial hyperostosis, Hypoplastic inferior i... |
ORPHA:61 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... |
ORPHA:77297 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Generalized joint laxity, Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu var... |
OMIM:609325 |
| Achondrogenesis Type 1A |
|
Abnormal enchondral ossification, Recurrent fractures, Short foot, Short neck, Short palm, Microm... |
ORPHA:93299 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Scoliosis, Joint hypermobility, Craniosynostosis, Recurrent fractures, Osteopenia |
OMIM:147060 |
| Hall-Riggs Mental Retardation Syndrome |
|
Osteoporosis, Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Metaphyseal dysp... |
OMIM:234250 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... |
OMIM:602111 |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
|
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... |
OMIM:612447 |
| Arthrogryposis, Distal, Type 4 |
|
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... |
OMIM:609128 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Genu valgum, Abnormality of epiphysis morphology, Abnormal patella morph... |
ORPHA:166002 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteoporosis, Genu valgum, Metaphyseal sclerosis, Scoliosis, Dystonia, Intestinal bleeding, Bowin... |
OMIM:612199 |
| Fibrous Dysplasia Of Bone |
|
Scoliosis, Abnormality of tibia morphology, Bone pain, Pathologic fracture, Abnormal lumbar spine... |
ORPHA:249 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Broad toe,... |
OMIM:609616 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Joint hyperflexibility, 2-3 toe syndactyly, Recurrent fractures, Osteopenia, Delayed skeletal mat... |
ORPHA:2324 |
| Apolipoprotein A-I Deficiency |
|
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... |
ORPHA:425 |
| Acheiropody |
|
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... |
OMIM:200500 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... |
ORPHA:3035 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Iliac cres... |
OMIM:223800 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... |
ORPHA:85435 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Infantile Systemic Hyalinosis |
|
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Telangiectasia of the skin, Osteomala... |
ORPHA:2176 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
| Congenital Bowing Of Long Bones |
|
Hyperlordosis, Bowing of the long bones |
ORPHA:2292 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... |
ORPHA:1570 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Scoliosis, Gait disturbance, Kyphosis |
OMIM:611225 |
| Richieri Costa-Da Silva Syndrome |
|
Inability to walk, Genu valgum, Generalized bone demineralization, Beaking of vertebral bodies, D... |
ORPHA:3101 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... |
OMIM:607143 |
| Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... |
OMIM:301000 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... |
OMIM:613330 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Scoliosis, Joint hypermobility, Congenital hip dislocation, Bowing of the long bones, Osteopenia |
OMIM:612940 |
| Contractural Arachnodactyly, Congenital |
|
Scoliosis, Camptodactyly, Metatarsus adductus, Congenital kyphoscoliosis, Wrist flexion contractu... |
OMIM:121050 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the metaphysis, Recurrent fractures, Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... |
OMIM:618291 |
| Osteogenesis Imperfecta, Type I |
|
Wormian bones, Joint hypermobility, Recurrent fractures, Increased susceptibility to fractures, O... |
OMIM:166200 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... |
OMIM:156500 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Histiocytosis, Hypoalbuminemia, Anemia, S... |
OMIM:209950 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Sclerotic verteb... |
ORPHA:289176 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity |
OMIM:618323 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... |
ORPHA:2756 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... |
OMIM:271650 |
| Odontochondrodysplasia |
|
Scoliosis, Platyspondyly, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, C... |
ORPHA:166272 |
| Leri Pleonosteosis |
|
Scoliosis, Camptodactyly of finger, Cubitus valgus, Broad thumb, Abnormality of finger, Elbow dis... |
ORPHA:2900 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... |
OMIM:600903 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... |
OMIM:618889 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... |
OMIM:184260 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Joint hyperflexibility, Gait disturbance |
ORPHA:1875 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Preaxial hand polydactyly, Short neck, Abnormal form of the vertebral bo... |
ORPHA:3098 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Inguinal hern... |
OMIM:256550 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... |
OMIM:602557 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Scoliosis, Genu valgum, Club-shaped proximal femur, Delayed pubic bone ossification, Hyperlordosi... |
OMIM:184250 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital throm... |
OMIM:313900 |
| Pachydermoperiostosis |
|
Osteoporosis, Scoliosis, Osteolysis, Joint swelling, Gastrointestinal hemorrhage, Abnormality of ... |
ORPHA:2796 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Osteopeni... |
OMIM:617475 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Joint laxity, Metaphyseal dysplasia, Kyphoscoliosis, Diaphyseal dysplasia, Epiphyse... |
OMIM:614727 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... |
OMIM:215140 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Hip dislocation, Fibular ap... |
OMIM:605274 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis, Small hand, Short foot, Hyperactivity, Talipes equinovarus, Hip dislocation |
OMIM:300434 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteoporosis, Ankylosis, Kyphosis, Bowing of the long bones, Recurrent fractures, Increased bone ... |
OMIM:239000 |
| Dysostosis, Stanescu Type |
|
Scoliosis, Wormian bones, Hyperlordosis, Massively thickened long bone cortices, Abnormality of e... |
ORPHA:1798 |
| Gaucher Disease Type 1 |
|
Cirrhosis, Osteolysis, Pericardial effusion, Pedal edema, Increased bone mineral density, Pancyto... |
ORPHA:77259 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Macular atrophy, Metaphyseal dysplasia, Optic atrophy, Cranial nerve compression |
OMIM:250450 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Tricusp... |
OMIM:143095 |
| Boomerang Dysplasia |
|
Abnormality of tibia morphology, Abnormal bone ossification, Abnormality of femur morphology, Poo... |
ORPHA:1263 |
| Chst3-Related Skeletal Dysplasia |
|
Scoliosis, Genu valgum, Cubitus valgus, Enlarged joints, Abnormal form of the vertebral bodies, R... |
ORPHA:263463 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bone pain, Bowing of the legs, V... |
ORPHA:89936 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Bone pain, Reduced bone mineral density, Osteomalacia, Bowing of the le... |
ORPHA:157215 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu varum, Osteopenia |
OMIM:619073 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Scoliosis, Rocker bottom foot, Hip dysplasia, Arthrogryposis multiplex congenita, Dystonia, Inabi... |
OMIM:611890 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Dilated cardiomyopathy,... |
OMIM:300718 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Abnormal digit morpho... |
OMIM:614900 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... |
ORPHA:457395 |
| Mucopolysaccharidosis, Type Iva |
|
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... |
OMIM:253000 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due... |
OMIM:259410 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Camptodactyly of finger, Scoliosis, Kyphosis, Ataxia, Abnormality of the cervical s... |
ORPHA:48431 |
| Mucopolysaccharidosis, Type Ivb |
|
Osteoporosis, Genu valgum, Scoliosis, Hyperlordosis, Platyspondyly, Joint laxity, Constricted ili... |
OMIM:253010 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... |
OMIM:618963 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation, Hyperactivity |
ORPHA:85288 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, Ab... |
OMIM:612840 |
| Ulnar Hypoplasia |
|
Radial bowing, Distal ulnar hypoplasia, Radial dysplasia, Mesomelic arm shortening, Hypoplasia of... |
OMIM:191440 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Toe walking, Elbow flexion contracture, Hyperlordosis, Patellar s... |
ORPHA:536516 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Genu valgum, Platyspondyly, Hypoplastic pelvis, Metaphyseal dysplasia, Short long bone, Joint dis... |
ORPHA:93316 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Aortic regurgitation, Joint hyperflexibility, Kyphosis, Gait disturbance, Shoulder dis... |
ORPHA:2181 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing |
OMIM:127350 |
| Campomelic Dysplasia |
|
Scoliosis, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, Bowing of the... |
ORPHA:140 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy, Overlapping toe |
OMIM:618572 |
| Shashi-Pena Syndrome |
|
Osteoporosis, Scoliosis, Kyphosis, Accelerated skeletal maturation |
OMIM:617190 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Reduced bone mineral density, Recurrent fractures, Delayed skeletal maturation |
ORPHA:2410 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... |
OMIM:210250 |
| Mesomelic Limb Shortening And Bowing |
|
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Bowing of the arm, Mesomel... |
OMIM:249710 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Short phalanx of finger, Joint la... |
OMIM:612350 |
| Langer Mesomelic Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... |
ORPHA:2632 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Brittle Cornea Syndrome |
|
Osteoporosis, Scoliosis, Hip dysplasia, Abnormality of epiphysis morphology, Joint hyperflexibili... |
ORPHA:90354 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteoporosis, Scoliosis, Hip dysplasia, Rickets, Joint hyperflexibility, Abnormal joint morpholog... |
ORPHA:1901 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... |
OMIM:271640 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... |
OMIM:603552 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... |
OMIM:246570 |
| Dermatoosteolysis, Kirghizian Type |
|
Scoliosis, Osteolysis, Tarsal synostosis, Abnormal diaphysis morphology, Abnormality of the wrist... |
ORPHA:1657 |
| Metaphyseal Acroscyphodysplasia |
|
Irregular phalanges, Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Short phalanx ... |
OMIM:250215 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Abnormal macular morphology, Sea-blue histiocytosis, Hypertriglyceridemia... |
OMIM:607616 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... |
ORPHA:3332 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... |
OMIM:605432 |
| Otospondylomegaepiphyseal Dysplasia |
|
