| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteochondrosis Of The Metatarsal Bone |
|
Avascular necrosis, Abnormality of the third metatarsal bone, Joint stiffness, Progressive joint ... |
ORPHA:564003 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
| Melorheostosis |
|
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... |
ORPHA:2485 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... |
ORPHA:2790 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Flattened femoral head, Enlarged tonsils, Leukocytosis, C... |
ORPHA:168621 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
| Bruck Syndrome 1 |
|
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... |
OMIM:259450 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... |
ORPHA:1952 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... |
OMIM:130060 |
| Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| 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 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form o... |
ORPHA:40 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis |
OMIM:256720 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Wormian bones, Slender long bone, Thin bony co... |
OMIM:619795 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
| Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
| Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Arthropathy, Osteolysis... |
OMIM:277950 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Hypopla... |
ORPHA:93359 |
| Monosomy 5P |
|
Recurrent fractures, Small hand, Short neck, Scoliosis, Abnormality of bone mineral density, Join... |
ORPHA:281 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Mazabraud Syndrome |
|
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis, Increased susceptibility to fractures |
OMIM:615066 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... |
OMIM:610967 |
| Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Rhizomelia, Vertebral wed... |
OMIM:301014 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
| Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Difficulty walking, Premature osteoarthrit... |
ORPHA:93314 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
| Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
| Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... |
ORPHA:429 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Broad-based gait, Recurrent fractures, Osteopenia, Inability to walk |
OMIM:619884 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone pain, Recurrent fractures, Bone cyst, Joint dislocation, Abnormal hip bone morphology, Osteo... |
ORPHA:93160 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged metacarpophalangeal joints, Platyspondyly, Difficulty walking, Sclerotic vertebral endpl... |
OMIM:208230 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... |
ORPHA:2771 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Wormia... |
OMIM:259440 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Obesity |
OMIM:264010 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... |
OMIM:184255 |
| Scheuermann Disease |
|
Morbus Scheuermann, Osteochondrosis, Kyphosis |
OMIM:181440 |
| Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Platyspondyly, Wormian bone... |
OMIM:609220 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Br... |
OMIM:619638 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones, Bone pain |
OMIM:174810 |
| Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Recurrent fractures, Bowing of the arm, Platyspondyly, Osteoporosi... |
OMIM:619131 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
| Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli... |
OMIM:610968 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Kyphosis, Decreased calvarial ossification, Biconcave vertebr... |
OMIM:259420 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Loss of ambulation, Osteopenia, Metaphyseal widening, Oste... |
ORPHA:2788 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bod... |
ORPHA:1486 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Splenomegal... |
OMIM:259700 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fracture, Short foot, Abnorma... |
ORPHA:166277 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Recurrent fractures, Increased spinal bone density, Gait disturbance, Spastic gait, Bone pain |
ORPHA:329475 |
| Diastrophic Dysplasia |
|
Joint stiffness, Kyphosis, Hypoplastic cervical vertebrae, Joint dislocation, Increased bone mine... |
ORPHA:628 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Short distal phalanx of finger, Mandibular osteomyelitis, Hypocalc... |
ORPHA:53 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... |
ORPHA:71289 |
| Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... |
ORPHA:93323 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Kyphosis, Reduced bone mineral density, Femoral bowing present at birth, str... |
OMIM:166220 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Waddling gait |
OMIM:618392 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility, Abnormal cort... |
OMIM:300831 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
| Mycetoma |
|
Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal form of the vertebral bodies, Patholo... |
ORPHA:2583 |
| Dysplasia Epiphysealis Hemimelica |
|
Flattened femoral head, Abnormality of femur morphology, Joint stiffness, Abnormal femoral neck m... |
ORPHA:1822 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture, Bo... |
ORPHA:85193 |
| Blount Disease, Adolescent |
|
Bowing of the legs, Osteochondritis dissecans, Genu varum |
OMIM:259200 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Joint swelling, Osteoarthritis, Deviation of finger, Abnormality of tibia morpho... |
ORPHA:1525 |
| Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly of finger, Short nec... |
ORPHA:3409 |
| Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Broad-based gait, Epiphyseal dysplasia, Foot pain, Irregular epiphyses, Flattened epiphysis, Genu... |
OMIM:600204 |
| Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Thin bony cortex,... |
OMIM:617952 |
| Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... |
OMIM:613982 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Arrhythmia, Camptodactyly, Short thumb |
OMIM:618453 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Enlarged joints, Recurrent fractures, Epiphyseal dysplasia, Osteoporosis, Joint laxity |
OMIM:248010 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Short 3rd metacarpal, Ventricular ... |
OMIM:169400 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300554 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:126550 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... |
ORPHA:2619 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... |
OMIM:313420 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Arthropathy, Increased... |
OMIM:146300 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... |
ORPHA:166011 |
| Gorham-Stout Disease |
|
Abnormality of femur morphology, Abnormality of finger, Osteomyelitis, Abnormal bone ossification... |
ORPHA:73 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, ... |
ORPHA:2631 |
| Caffey Disease |
|
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... |
ORPHA:1310 |
| Grant Syndrome |
|
Joint dislocation, Abnormality of the glenoid fossa, Wormian bones, Decreased skull ossification,... |
ORPHA:2097 |
| Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... |
OMIM:607326 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... |
OMIM:231070 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... |
OMIM:602080 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... |
OMIM:100800 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Abnormally ossif... |
OMIM:613330 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Pulmonary insufficiency, Platyspondyly, Wormian bones, Limb u... |
OMIM:166210 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Short neck, Pla... |
ORPHA:582 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
| Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Abnormality of the vertebral column, Pathologic fracture, Abnormal long b... |
ORPHA:52430 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Limitation of joint mobility, Abnormal joint morphology, Osteoarthritis, Platyspondyly... |
ORPHA:93351 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Type 1 collagen overmodification, Kyphosis, Fe... |
OMIM:610915 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... |
ORPHA:1570 |
| Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... |
OMIM:114000 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Delayed proximal femoral epiphyseal ossification, Arthralgia of the hip, Genu valgum, Knee pain, ... |
ORPHA:93311 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m... |
OMIM:231095 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Sclerosis of skull base, Abnormal metaphyseal trabeculation, Short... |
OMIM:224300 |
| Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
| Geroderma Osteodysplastica |
|
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... |
ORPHA:2078 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limited elbow extension, Hypero... |
OMIM:604922 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... |
OMIM:618363 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Cranial nerve... |
OMIM:259710 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... |
ORPHA:37748 |
| Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... |
ORPHA:1350 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Failure to thrive |
OMIM:615085 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... |
ORPHA:352540 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Enlarged joints, Bowing of the legs, Lumbar hyperlordosis, Limited elbow extension, Limb undergro... |
ORPHA:156728 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
| Osteogenesis Imperfecta, Type Xiii |
|
Decreased body weight, Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Scoliosis, Br... |
OMIM:615923 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Conjuga... |
OMIM:269920 |
| Weismann-Netter Syndrome |
|
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... |
OMIM:307800 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Anterior bowing of long bones,... |
OMIM:255800 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... |
OMIM:611490 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Joint swelling, Abnormal tibial metaphysis morphology, Pa... |
ORPHA:668 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... |
ORPHA:1306 |
| Marshall-Smith Syndrome |
|
Accelerated skeletal maturation, Craniosynostosis, Reduced bone mineral density, Scoliosis, Slend... |
ORPHA:561 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Osteopenia, Decreased calvarial ossification, Platyspondyly, Angulated humer... |
OMIM:616229 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... |
ORPHA:1782 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Gait disturbance, Osteopenia, Bone cyst, Pathologic fracture |
OMIM:618193 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Metaphyseal irregularity, Fractures of the long bone... |
ORPHA:319195 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Hip contracture, Kyphosis, Talipes equinovarus, Tip-toe gait, Scoliosis, Hyperl... |
OMIM:615290 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... |
ORPHA:166002 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Metaphyseal cupping, Widely patent fontanelles and sutures, Craniosynostosis,... |
OMIM:241500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
| Kyphomelic Dysplasia |
|
Joint stiffness, Micromelia, Abnormal form of the vertebral bodies, Large hands, Bowing of the lo... |
ORPHA:1801 |
| Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
| Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow... |
ORPHA:1803 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Kn... |
ORPHA:94068 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteolysis involving bones of the lower limbs, Osteopenia, Osteoporosis, Abnor... |
ORPHA:371428 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
| Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300009 |
| Juvenile Paget Disease |
|
Recurrent fractures, Osteoporosis, Bowing of the long bones, Hypertension, Coarse metaphyseal tra... |
ORPHA:2801 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Cranial hyperostos... |
OMIM:259720 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian bones, Short tubular bone... |
ORPHA:85184 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxation, Delayed closure of the... |
OMIM:259600 |
| Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Reduced bone mineral density, Recurrent joint dislocation, Scoliosis, Arteri... |
OMIM:619115 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Scoliosis |
OMIM:617087 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... |
ORPHA:2769 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Hypocholesterol... |
OMIM:610539 |
| Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Optic atrophy, Genu va... |
ORPHA:1328 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Elbow flexion contractu... |
OMIM:600175 |
| Alpha-Mannosidosis |
|
Avascular necrosis, Kyphosis, Short neck, Scoliosis, Arthritis, Synostosis of joints, Hypoplastic... |
ORPHA:61 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... |
OMIM:618728 |
| Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short neck, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, P... |
ORPHA:93267 |
| Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Brachydactyly, Ost... |
OMIM:234250 |
| Majeed Syndrome |
|
Metaphyseal irregularity, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytos... |
ORPHA:77297 |
| Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity |
OMIM:616471 |
| Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Reduced bone mineral density, Scoliosis, Slender long bone, Hyperlordosis, Gait ... |
ORPHA:262 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Intestinal bleeding, Metaphyseal sclerosis, Osteopenia, Retinal telangiectasia, Scoliosis... |
OMIM:612199 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Broad femoral neck, Short f... |
OMIM:609325 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Craniosynostosis, Osteopenia, Scoliosis, Joint hypermobility |
OMIM:147060 |
| Stuve-Wiedemann Syndrome 2 |
|
Scoliosis, Camptodactyly, Bowing of the long bones, Pulmonary arterial hypertension, Short long b... |
OMIM:619751 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
| Achondrogenesis Type 1A |
|
Recurrent fractures, Short neck, Micromelia, Short foot, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Ataxia, Lumbar hyperlordosis, Talipes equinovarus, Inability to walk,... |
OMIM:616756 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Ulnar deviation of finger, Bowing of the long bones, Patellar dislocation... |
OMIM:121050 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Delayed skeletal maturation, Joint hyperflex... |
ORPHA:2324 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
| Congenital Bowing Of Long Bones |
|
Bowing of the long bones, Hyperlordosis |
ORPHA:2292 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Gait disturbance, Kyphosis, Scoliosis |
OMIM:611225 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Falls, Genu valgum, Generalized b... |
ORPHA:3101 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
| Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin... |
ORPHA:75508 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Accelerated skeletal maturation, Upper limb undergrowth, Arthralgia of the hip,... |
ORPHA:93307 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... |
ORPHA:85435 |
| Infantile Systemic Hyalinosis |
|
Joint stiffness, Recurrent fractures, Telangiectasia of the skin, Osteopenia, Camptodactyly of fi... |
ORPHA:2176 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... |
OMIM:618889 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Metaphyseal dysplasia, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
| Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis, Calvarial hyperostosis, Thin bony cortex, Mandibular hyper... |
OMIM:176920 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... |
OMIM:313900 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Short ne... |
OMIM:253000 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Talipes equinovarus, Flexion contracture, Overlapping fingers, Congenital hip dislocati... |
OMIM:618291 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Pulmonic stenosis, Short neck, Abnormality of the humer... |
ORPHA:3098 |
| Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Osteopenia, Wormian bones, In... |
OMIM:166200 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Hypophosphatemic ric... |
ORPHA:289176 |
| Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Deviation of the 2nd ... |
OMIM:609128 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... |
ORPHA:1837 |
| Odontochondrodysplasia |
|
Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis bone, Bowing of the lo... |
ORPHA:166272 |
| Pachydermoperiostosis |
|
Avascular necrosis, Joint swelling, Osteomyelitis, Small hand, Scoliosis, Genu varum, Osteoporosi... |
ORPHA:2796 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| Leri Pleonosteosis |
|
Joint stiffness, Abnormality of finger, Genu recurvatum, Abnormally straight spine, Camptodactyly... |
ORPHA:2900 |
| Spondylometaphyseal Dysplasia, Axial |
|
Coxa vara, Retinal degeneration, Narrow greater sciatic notch, Splenomegaly, Rod-cone dystrophy, ... |
OMIM:602271 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... |
OMIM:184260 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
| Pycnodysostosis |
|
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Scoliosis, Hyperlordosis, Joint la... |
ORPHA:763 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Ataxia, Platyspondyly... |
OMIM:230600 |
| Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... |
ORPHA:1798 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Kyphosis, Cubitus valgus, Joint hyperflexibility |
ORPHA:1875 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ul... |
OMIM:143095 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density |
ORPHA:2410 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Adducted thumb, Arachnodactyly, Shoulder dislocation, Scoliosis, Gait disturbance, Aort... |
ORPHA:2181 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Cherry red spot of the macul... |
OMIM:256550 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Ataxia, Dysmetria, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the... |
ORPHA:48431 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... |
ORPHA:157215 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Constricted i... |
OMIM:253010 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, Platyspondyly, Genu valgum, Hip sub... |
OMIM:271640 |
| Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Camptodactyly of finger, Bowing of the arm, Mesomel... |
OMIM:249710 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Coxa vara, Joint stiffness, Joint dislocation, Osteopenia, Hip dysplasia, Avascular necrosis of t... |
ORPHA:1901 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Osteopenia, Os... |
ORPHA:77259 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Osteopenia, Flared metaphysis, Genu varum |
OMIM:619073 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Joint laxity, Diaphyse... |
OMIM:614727 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Wormian bones, Multi... |
OMIM:259410 |
| Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Scolios... |
ORPHA:263463 |
| Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... |
ORPHA:971 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Tapered finger, Foot joint contracture, Talipes equinovarus, Flexion... |
ORPHA:536516 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
| Brittle Cornea Syndrome |
|
Arachnodactyly, Pulmonic stenosis, Scoliosis, Osteoporosis, Camptodactyly, Gait disturbance, Abno... |
ORPHA:90354 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Osteopenia, Flared ... |
OMIM:616897 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Platyspondyly,... |
ORPHA:536471 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Abnormal metaphysis morphology |
ORPHA:417 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wi... |
OMIM:252605 |
| Grange Syndrome |
|
Syndactyly, Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Short palm |
ORPHA:79094 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... |
ORPHA:1427 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature,... |
OMIM:253290 |
| Shashi-Pena Syndrome |
|
Kyphosis, Osteoporosis, Accelerated skeletal maturation, Scoliosis |
OMIM:617190 |
| Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the wrist, Osteolysis, Tarsal synostosis... |
ORPHA:1657 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... |
OMIM:601559 |
| Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Scoliosis, V... |
OMIM:112240 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Osteopenia, Short humerus, Ankylos... |
OMIM:239000 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
| Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Crumpled long bones, Wormian bones, Scoliosis, Abnormal form of th... |
ORPHA:2050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation |
OMIM:300434 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Stenosis o... |
OMIM:112250 |
| Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Roc... |
OMIM:618393 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Osteopenia, Pathologic frac... |
OMIM:156400 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
