Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... |
ORPHA:1802 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Eiken Syndrome |
|
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... |
ORPHA:79106 |
Osteochondrosis Of The Metatarsal Bone |
|
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Arth... |
ORPHA:564003 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... |
ORPHA:3416 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur |
OMIM:600121 |
Sclerosteosis |
|
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... |
ORPHA:3152 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... |
ORPHA:970 |
Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... |
ORPHA:2790 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... |
ORPHA:53697 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Angioosteohypotrophic Syndrome |
|
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... |
ORPHA:75508 |
Hyaline Fibromatosis Syndrome |
|
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia |
OMIM:228600 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... |
ORPHA:2779 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Caffey Disease |
|
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... |
OMIM:114000 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... |
ORPHA:166277 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Weight loss, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Dysplastic Cortical Hyperostosis |
|
Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c... |
ORPHA:2204 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Osteolysis |
ORPHA:2776 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... |
OMIM:118651 |
Osteosarcoma |
|
Weight loss, Abnormality of the metaphysis, Pathologic fracture, Abnormality of the femoral metap... |
ORPHA:668 |
Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly, Camptodactyly of finger |
ORPHA:3180 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation ... |
ORPHA:1525 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... |
ORPHA:85188 |
Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Progressive flexion contractures, Abnormal diaphysis morphology, Osteolysis |
ORPHA:2028 |
Dermatoosteolysis, Kirghizian Type |
|
Ankle swelling, Joint contracture of the hand, Split hand, Broad foot, Flexion contracture, Osteo... |
OMIM:221810 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... |
ORPHA:2114 |
Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of vertebral bodies, K... |
OMIM:604864 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... |
ORPHA:73 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... |
OMIM:277950 |
Rosaï-Dorfman Disease |
|
Anemia, Osteolysis |
ORPHA:158014 |
Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... |
ORPHA:2635 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... |
OMIM:271530 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Shor... |
OMIM:619638 |
Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:600081 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Death in ... |
OMIM:256150 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, H... |
OMIM:617719 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... |
ORPHA:2501 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... |
ORPHA:1310 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Hip dysplasia, Limitation of joint mob... |
OMIM:619598 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Micrognathia, Abnormality of epiphysis morphology, Metacarpal osteolysis, Slender long ... |
ORPHA:2774 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... |
OMIM:607078 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness |
OMIM:616583 |
Ollier Disease |
|
Anemia, Abnormality of the metaphysis, Joint stiffness, Micromelia, Osteolysis |
ORPHA:296 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Ramon Syndrome |
|
Failure to thrive, Osteolysis |
ORPHA:3019 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... |
OMIM:166740 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... |
ORPHA:93405 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormality of the knee, Abnormal shoulder morphology, Abnormality... |
ORPHA:66627 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Bowing of the long bones, Abnormal cortical bone ... |
ORPHA:2097 |
Keratoderma Hereditarium Mutilans |
|
Honeycomb palmoplantar hyperkeratosis, Osteolysis |
ORPHA:494 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormal bone str... |
ORPHA:93160 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:300554 |
Osteopenia And Sparse Hair |
|
Joint laxity, Osteopenia |
OMIM:259690 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Abnormality of epiphysis morphology, Abnormal sacroiliac joint mor... |
ORPHA:324964 |
Ck Syndrome |
|
Micrognathia, Slender build, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... |
OMIM:300831 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... |
OMIM:609052 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormal foot morphology, Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone min... |
ORPHA:94068 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, ... |
OMIM:609223 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... |
OMIM:132400 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Small for gestational age, Failure to thrive, Slender build, Osteopenia, Slender long bones with ... |
ORPHA:50811 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormal foot morphology, Abnormality of the metaphysis, Abnormal diaphysis mo... |
ORPHA:1657 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Holzgreve Syndrome |
|
Renal hypoplasia, Hypoplastic left heart, Renal agenesis |
OMIM:236110 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Abnormal cortical bone morphology, Slender long bone, Limitation of joint mobility,... |
ORPHA:1486 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... |
OMIM:156530 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... |
ORPHA:2619 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Pedal edema, Increased bone mineral density |
ORPHA:75325 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:241530 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... |
OMIM:617974 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... |
ORPHA:1952 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... |
OMIM:112910 |
Proteus Syndrome |
|
Mandibular hyperostosis, Thin bony cortex, Hypertrophy of skin of soles, Splenomegaly, Calvarial ... |
OMIM:176920 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Microphthalmia, Growth delay, Morning glory anomaly, Optic disc coloboma,... |
OMIM:120200 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis |
OMIM:256720 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
Pyle Disease |
|
Metaphyseal dysplasia, Hypoplastic frontal sinuses, Metaphyseal widening, Platyspondyly, Genu val... |
OMIM:265900 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Coxa valga, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dor... |
OMIM:127300 |
Classic Hodgkin Lymphoma |
|
Weight loss, Splenomegaly, Osteolysis |
ORPHA:391 |
Anauxetic Dysplasia 1 |
|
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Platyspondyly, Short neck, Delay... |
OMIM:607095 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Short stature, Rhizomelia, Patent ductus arteriosus, Hypoplastic left heart, Ch... |
OMIM:617661 |
Bresek Syndrome |
|
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Microphthalmia, Renal dysplasia,... |
ORPHA:85284 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:264700 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... |
OMIM:609655 |
Talo-Patello-Scaphoid Osteolysis |
|
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... |
ORPHA:50809 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Microphthalmia, Morning glory anomaly, Ret... |
OMIM:120330 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Osteogenesis Imperfecta, Type Xviii |
|
Micrognathia, Thin bony cortex, Bowing of the long bones, Generalized osteoporosis, Joint hypermo... |
OMIM:617952 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... |
OMIM:611555 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Retinal dysplasia, Coloboma |
OMIM:615665 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... |
ORPHA:85184 |
Vitamin D-Dependent Rickets, Type 2A |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... |
OMIM:277440 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Hypertension, Renal insufficiency, Short stature |
OMIM:618681 |
Gnathodiaphyseal Dysplasia |
|
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... |
OMIM:166260 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... |
OMIM:271630 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Brachydactyly, Camptodactyly of finger, Joint stiffness, Clinodactyly of the 5th... |
ORPHA:137834 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger clinodactyly |
OMIM:615923 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Increased susceptibility to fractures, Bowing of the long bones, Abn... |
OMIM:602080 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Patholo... |
ORPHA:98850 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... |
ORPHA:93284 |
Infantile Myofibromatosis |
|
Bone cyst, Abnormality of the metaphysis, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... |
OMIM:609324 |
Dent Disease 1 |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:300009 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... |
ORPHA:1159 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Brachyolmia, Maroteaux Type |
|
Abnormal form of the vertebral bodies, Scoliosis, Platyspondyly |
ORPHA:93302 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:52430 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Growth delay, Short stature, Renal cyst, Abnormal cardiac septu... |
OMIM:615583 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Greenberg Dysplasia |
|
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... |
ORPHA:1426 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Lower limb asymmetry, Failure to thrive, Hyperostosis, Art... |
ORPHA:2485 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Renal cyst |
OMIM:228940 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Oste... |
OMIM:612852 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, S... |
OMIM:156510 |
Microcephaly 20, Primary, Autosomal Recessive |
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Renal hypoplasia, Microphthalmia, Short stature, Optic nerve hypoplasia, Hyperechogenic kidneys |
OMIM:617914 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... |
ORPHA:157965 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Acromesomelic Dysplasia 2C |
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Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Alagille Syndrome 2 |
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Renal hypoplasia, Hypertension, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... |
OMIM:610205 |
Progressive Pseudorheumatoid Dysplasia |
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Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... |
OMIM:208230 |
Dentin Dysplasia |
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Increased bone mineral density |
ORPHA:1653 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... |
ORPHA:93314 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Flattened femoral head, Abnormality of the vertebral column, Arthralgia of the hip, Abnormal inte... |
ORPHA:99642 |
Léri-Weill Dyschondrosteosis |
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Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Arthrogryposis multipl... |
OMIM:236500 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Abnormality of the carpal bones, Upper limb undergrowth, Abnormality of epiphysis morphology, Sho... |
ORPHA:93351 |
Distal Osteosclerosis |
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Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Osteogenesis Imperfecta, Type Xiv |
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Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Osteopenia |
OMIM:615066 |
Melnick-Needles Syndrome |
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Micrognathia, Short clavicles, Bowing of the long bones, Abnormal cortical bone morphology, Abnor... |
ORPHA:2484 |
Stuve-Wiedemann Syndrome 1 |
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Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... |
OMIM:601559 |
Autosomal Recessive Hypophosphatemic Rickets |
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Genu varum, Tibial bowing, Lower limb asymmetry, Abnormality of the lower limb, Abnormal sacroili... |
ORPHA:289176 |
Meier-Gorlin Syndrome 8 |
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Renal hypoplasia, Bilateral cryptorchidism, Intrauterine growth retardation |
OMIM:617564 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ri... |
OMIM:602557 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr... |
OMIM:616897 |
Osteolysis Syndrome, Recessive |
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Abnormal foot morphology, Distal radial epiphyseal osteolysis, Osteolytic defects of the middle p... |
OMIM:259610 |
Pseudoachondroplasia |
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Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
Felty Syndrome |
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Neutropenia, Synovitis, Weight loss, Abnormal lymphocyte morphology, Anemia, Arthritis, Splenomeg... |
ORPHA:47612 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... |
OMIM:147891 |
Isolated Osteopoikilosis |
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Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... |
ORPHA:166119 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, Finger syndact... |
ORPHA:3329 |
Hypophosphatemic Bone Disease |
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Osteomalacia, Bowing of the legs, Rickets |
OMIM:146350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Hypertrophic cardiomyopathy, Renal hypoplasia, Hepatomegaly, Microphthalmia, Oligohydramnios, Ket... |
OMIM:619053 |
Morquio Syndrome C |
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Platyspondyly |
OMIM:252300 |
Hypercholanemia, Familial, 2 |
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Osteopenia |
OMIM:619256 |
Maffucci Syndrome |
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Recurrent fractures, Osteolysis |
ORPHA:163634 |
Hadziselimovic Syndrome |
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Renal hypoplasia, Ventricular septal defect, Short stature, Ventricular hypertrophy, Atrial septa... |
OMIM:612946 |
Pulmonary Hypoplasia, Primary |
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Neonatal death |
OMIM:265430 |
Fibrous Dysplasia Of Bone |
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Abnormality of the ulna, Thin bony cortex, Abnormality of femur morphology, Lower limb asymmetry,... |
ORPHA:249 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Renal hypoplasia, Hepatomegaly, Death in infancy, Myopathy, Renal tubular acidosis, Renal dysplas... |
OMIM:614922 |
Atelosteogenesis Type I |
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Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... |
ORPHA:1190 |
Slc35A2-Cdg |
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Metatarsus adductus, Limb joint contracture, Failure to thrive in infancy, Increased circulating ... |
ORPHA:356961 |
Aicardi-Goutieres Syndrome 9 |
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Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... |
OMIM:619487 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Small for gestational age, Failure to thrive, Slender build, Disharmonious carpal bone, Genu valg... |
OMIM:608154 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Failure to t... |
ORPHA:289157 |
Gamma-Heavy Chain Disease |
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Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... |
ORPHA:100026 |
Bruck Syndrome 1 |
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Ankle flexion contracture, Hip contracture, Vertebral wedging, Increased susceptibility to fractu... |
OMIM:259450 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Vesicoureteral Reflux 2 |
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Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
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Limb undergrowth, Massively thickened long bone cortices, Micromelia, Brachydactyly |
OMIM:122900 |
Femoral-Facial Syndrome |
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Micrognathia, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Hip dysplasia, Abnormal... |
ORPHA:1988 |
Hypercholanemia, Familial 1 |
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Failure to thrive, Rickets |
OMIM:607748 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Broad metacarpals, Osteolysis involving bones of the lower limbs, Increased susceptibility to fra... |
ORPHA:371428 |
Osteopoikilosis And Dacryocystitis |
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Osteopoikilosis |
OMIM:166705 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... |
OMIM:609616 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Weismann-Netter Syndrome |
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Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... |
OMIM:112350 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Micrognathia, Metatarsal osteolysis, Ankle swelling, Metacarpal osteolysis, Osteolysis involving ... |
OMIM:166300 |
Langer Mesomelic Dysplasia |
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Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Osteoporosis |
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Osteoporosis |
OMIM:166710 |
Duchenne And Becker Muscular Dystrophy |
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Elevated circulating creatine kinase concentration, Reduced bone mineral density, Slender long bo... |
ORPHA:262 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... |
ORPHA:166011 |
Pachydermoperiostosis |
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Genu varum, Abnormality of epiphysis morphology, Osteoporosis, Anemia, Abnormal cortical bone mor... |
ORPHA:2796 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Small epiphyses, Micrognathia, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
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Platyspondyly, Osteoarthritis, Hip osteoarthritis |
OMIM:271600 |
Short Stature, Dauber-Argente Type |
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Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral density, Osteopeni... |
OMIM:619489 |
Intermediate Osteopetrosis |
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Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Osteogenesis Imperfecta, Type V |
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Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Platyspon... |
OMIM:610967 |
Microphthalmia, Syndromic 9 |
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Truncus arteriosus, Short stature, Single ventricle, Patent ductus arteriosus, Ventricular septal... |
OMIM:601186 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... |
ORPHA:85435 |
Oligomeganephronia |
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Bilateral renal hypoplasia, Renal tubular atrophy, Branchial cyst, Abnormal nephron morphology, H... |
ORPHA:2260 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... |
OMIM:618728 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Abnormality of the lower limb, Osteomalacia, Hypophosphatemic rickets, Rickets |
OMIM:193100 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Renal hypoplasia, Ventricular septal defect, Abnormality of mesentery morphology, Polyhydramnios,... |
ORPHA:2256 |
Congenital Disorder Of Glycosylation, Type Il |
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Hepatomegaly, Pericardial effusion, Ascites, Edema, Polycystic kidney dysplasia, Hepatosplenomega... |
OMIM:608776 |
Aplasia Cutis Congenita |
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Abnormality of bone mineral density, Toe syndactyly, Finger syndactyly |
ORPHA:1114 |
Dyssegmental Dysplasia With Glaucoma |
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Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... |
OMIM:601561 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Coxoauricular Syndrome |
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Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... |
ORPHA:1508 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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C1-C2 subluxation, Metaphyseal dappling, Metaphyseal irregularity, Pes planus, Platyspondyly, Gen... |
OMIM:184250 |
Desbuquois Dysplasia 1 |
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Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... |
OMIM:251450 |
Monosomy 5P |
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Abnormality of bone mineral density, Small hand, Finger syndactyly, Recurrent fractures, Microret... |
ORPHA:281 |
Hypophosphatasia, Adult |
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Abnormal foot morphology, Rickets, Increased susceptibility to fractures, Pathologic fracture, Os... |
OMIM:146300 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Kyphosis,... |
OMIM:313420 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Small epiphyses, Micrognathia, Microretrognathia, Hip contracture, Knee dislocation, Coronal clef... |
OMIM:618363 |
Gaucher Disease Type 1 |
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Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, Increased bone ... |
ORPHA:77259 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Short Rib-Polydactyly Syndrome |
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Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... |
ORPHA:1505 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... |
ORPHA:231736 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
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Ankylosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Osteolysis |
ORPHA:659 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Renal hypoplasia, Lens coloboma, Microphthalmia, Webbed neck, Pulmonic stenosis, Joint contractur... |
OMIM:618914 |
Cat-Eye Syndrome |
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Hydronephrosis, Intrauterine growth retardation, Microphthalmia, Short stature, Chorioretinal col... |
ORPHA:195 |
Congenital Disorder Of Glycosylation, Type Ig |
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Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... |
OMIM:607143 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Abnormal cardiac sep... |
OMIM:618494 |
Chondroectodermal Dysplasia With Night Blindness |
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Micrognathia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones, Talipe... |
ORPHA:319195 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Fanconi Anemia, Complementation Group I |
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Horseshoe kidney, Renal hypoplasia, Ventricular septal defect, Intrauterine growth retardation, M... |
OMIM:609053 |
Atelosteogenesis Type Ii |
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Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... |
ORPHA:56304 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... |
OMIM:156500 |
Ophthalmomandibulomelic Dysplasia |
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Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... |
ORPHA:2741 |
Tyrosinemia Type 1 |
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Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Renal Coloboma Syndrome |
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Renal hypoplasia, Retinal coloboma, Renal dysplasia, Optic disc coloboma, Multicystic kidney dysp... |
ORPHA:1475 |
Metaphyseal Acroscyphodysplasia |
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Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... |
OMIM:307800 |
Even-Plus Syndrome |
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Renal hypoplasia, Severe short stature, Recurrent urinary tract infections, Oligohydramnios, Atri... |
OMIM:616854 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Osteoporosis, Platyspondyly, Kyphosis |
ORPHA:2786 |
Senior-Boichis Syndrome |
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Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... |
ORPHA:84081 |
Matthew-Wood Syndrome |
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Horseshoe kidney, Renal hypoplasia, Intrauterine growth retardation, Microphthalmia, Annular panc... |
ORPHA:2470 |
Tibial Hemimelia |
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Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Microcephaly-Micromelia Syndrome |
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Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowth, Oligodac... |
OMIM:251230 |
Ivic Syndrome |
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Leukocytosis, Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Thrombocytopenia, Hyp... |
OMIM:147750 |
Hyperparathyroidism, Transient Neonatal |
|
Femoral bowing, Short ribs, Osteopenia |
OMIM:618188 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... |
ORPHA:93352 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteoporosis, Juvenile |
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Osteoporosis |
OMIM:259750 |
Adams-Oliver Syndrome 6 |
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Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Hepatic fibrosis, Tricuspid regu... |
OMIM:616589 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ph... |
ORPHA:90154 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Multiple glomerular cys... |
OMIM:267010 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,... |
OMIM:208540 |
Cach Syndrome |
|
Renal hypoplasia, Optic atrophy, Intrauterine growth retardation, Growth delay, Pancreatitis, Art... |
ORPHA:135 |
Odontochondrodysplasia 1 |
|
Genu varum, Genu recurvatum, Short phalanx of finger, Short long bone, Flat acetabular roof, Cone... |
OMIM:184260 |
Thanatophoric Dysplasia Type 1 |
|
Femoral bowing, Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the ... |
ORPHA:1860 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... |
ORPHA:1423 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... |
OMIM:115197 |
Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Bowing of the legs, Osteopenia, Flared metaphysis, Metaphyseal cupping |
OMIM:619073 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Micropenis, Pericardial effusion, Cryptorchidism |
OMIM:614684 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly |
ORPHA:93283 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Femoral bowing, Recurrent fractures, Osteoporosis, Osteopenia |
OMIM:126550 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatarsal, Platyspo... |
OMIM:271650 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Tricuspid regurgitation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... |
ORPHA:90650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... |
ORPHA:90153 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Decreased body weight, Abnormal cortical bone morphology |
OMIM:614886 |
Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the legs, Pes valgus, Osteoporosis, Pes planus, Platyspondyly, Joint hypermobility, Cox... |
OMIM:619131 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Glomerulopathy, Pericardial effusion, Ascites, Angioedema, Hematuria, Splenomegaly,... |
ORPHA:36412 |
Distal Trisomy 6P |
|
Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Short stature, Abnormality of ... |
ORPHA:1745 |
Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Irregular vertebral endplates, Failure to thrive, Osteoporosis, Platyspond... |
OMIM:234250 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Spondylolisthesis, Cervical spondylosis, Osteoarthritis |
OMIM:184300 |
Nephronophthisis 13 |
|
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Retinal dystrophy, Stage 5 c... |
OMIM:614377 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, ... |
OMIM:614376 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Small epiphyses, Tapered finger, Irregular vertebral endplates, Metaphyseal irregularity, Platysp... |
OMIM:601668 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Micropenis, Tetralogy of Fallot, Short stature |
OMIM:617926 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Increased susceptibility to fractures, Knee flexion contracture, Osteopenia,... |
OMIM:609220 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Moderate generalized osteoporosis, Biconcave flattened vertebrae |
OMIM:166230 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Abnormality of the anterior pituitary, Intrauterine ... |
ORPHA:75389 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... |
OMIM:607326 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... |
ORPHA:93360 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Congenital hip disloca... |
ORPHA:93333 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal foot morphology, Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Short neck, C... |
OMIM:184252 |
Gombo Syndrome |
|
Abnormal heart morphology, Microphthalmia, Delayed puberty |
OMIM:233270 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Small epiphyses, Micrognathia, Cervical instability, Laryngotracheomalacia, Abnormal vertebral mo... |
ORPHA:93346 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... |
OMIM:184100 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Camptodactyly |
OMIM:246560 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Failure to thrive, Arthritis, Splenomegaly, Lipogranuloma... |
OMIM:228000 |
Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal hypoplasia, Renal agenesis, Patent ductus arteriosus, Micropenis, Cryptorchidi... |
ORPHA:171839 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Flat capital femoral epiphysis, Tapered finger, Irregular vertebral endplates, Kyphoscoliosis, Jo... |
OMIM:612350 |
Dysspondyloenchondromatosis |
|
Lower limb asymmetry, Kyphoscoliosis, Generalized joint laxity, Abnormality of ulnar metaphysis, ... |
ORPHA:85198 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Intrauterine gro... |
OMIM:609029 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... |
OMIM:618961 |
Meckel Syndrome, Type 4 |
|
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Microphthalmia, Bile duc... |
OMIM:611134 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Thrombocytopenia, Fractures of the long bones, Abnormal sacrum m... |
ORPHA:464329 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... |
OMIM:608940 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Death in infancy, Intrauterine growth retardation, Growth delay, Microphthalmia, Micropenis, Camp... |
OMIM:610756 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Short stature, Patent ductus arteriosus, Iris coloboma, Remnants of the hyaloid vasc... |
OMIM:300166 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Chromomycosis |
|
Abnormality of the lower limb, Ankylosis, Abnormal foot morphology, Osteolysis |
ORPHA:182 |
Meckel Syndrome 12 |
|
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Arthrogryposis multiplex conge... |
OMIM:616258 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Microphthalmia, Tractional retinal detachment, Glial remnants anterior... |
ORPHA:91495 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... |
OMIM:602111 |
Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... |
ORPHA:83468 |
Sapho Syndrome |
|
Synovitis, Abnormal sacroiliac joint morphology, Hyperostosis, Arthritis, Osteomyelitis, Osteolys... |
ORPHA:793 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Growth delay, Coloboma, Uraciluria |
OMIM:274270 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Palmoplantar keratoderma, Arachnodactyly, Osteolysis, Palm... |
ORPHA:678 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Iliac crest serration, Posterior w... |
ORPHA:168549 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Abnormality of the vertebral column, Micrognathia, Metaphyseal dysplas... |
ORPHA:93316 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Growth delay, Renal dysplasia, Abnormal heart... |
OMIM:617641 |
Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Platyspondyly, Multiple prenatal fractures, Kyphosis, Bowing of... |
OMIM:259440 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Pseudohypoparathyroidism, Vesicoureteral reflux, Coloboma, Cryptorchidism |
ORPHA:464288 |
Marden-Walker Syndrome |
|
Hypospadias, Renal hypoplasia, Dextrocardia, Decreased muscle mass, Intrauterine growth retardati... |
OMIM:248700 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormality of the kidney, Abnormality ... |
ORPHA:1041 |
Boomerang Dysplasia |
|
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality ... |
ORPHA:1263 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Occipital Horn Syndrome |
|
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Synostosis of joints, Brachydactyly, Osteom... |
ORPHA:198 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Prominent calcaneus, Pes planus, Toe clinodactyly, Limited elbow extensi... |
ORPHA:457395 |
Nestor-Guillermo Progeria Syndrome |
|
Micrognathia, Failure to thrive, Osteoporosis, Osteolytic defects of the distal phalanges of the ... |
OMIM:614008 |
Bruck Syndrome |
|
Talipes equinovarus, Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, ... |
ORPHA:2771 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... |
ORPHA:440354 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Hepatic fibrosis, Nephrotic syndrome, Pericardial effusi... |
OMIM:212065 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Lacticaciduria, Ne... |
OMIM:619167 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Rickets |
OMIM:615605 |
Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Renal hypoplasia, Stillbirth |
OMIM:276950 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limb... |
OMIM:300863 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Short stature, Prominent superfi... |
OMIM:616817 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... |
ORPHA:1427 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... |
OMIM:611590 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Duane-Radial Ray Syndrome |
|
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal agenesis, Renal malrotation, Ventricula... |
OMIM:607323 |
Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla... |
OMIM:211350 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... |
OMIM:608728 |
Mungan Syndrome |
|
Renal hypoplasia, Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic ste... |
OMIM:611376 |
Stüve-Wiedemann Syndrome |
|
Talipes equinovarus, Metaphyseal widening, Thickened cortex of long bones, Osteoporosis, Bowing o... |
ORPHA:3206 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... |
ORPHA:93307 |
Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Intrauterine growth retardation, Microphthalmia, Short stature, Pelvic kidney, ... |
OMIM:603467 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... |
ORPHA:93315 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Atrial septal defect, Hypomimic face |
OMIM:608572 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Iron deficiency anemia, Rickets, Osteomalacia, Tooth abscess |
ORPHA:89937 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:212780 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microphthalmia, Intrauterine growth retardation, Arthrogryposis multiplex congenita |
OMIM:616570 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates |
OMIM:612847 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Micrognathia, Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology... |
ORPHA:163649 |
Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Osteoporosis, Dislocated radial head, Arachnodactyly, Platyspondyly, Joint hyperm... |
OMIM:614856 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Abnormality of epiphysis morphology, Bowing of the long bones, Rhizomelia, Abnormal... |
ORPHA:93267 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis, Cone-shaped epiphysis |
ORPHA:71267 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... |
OMIM:231070 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Hypoplastic ilia, Talipes equinovarus, Abnormal vertebral morphology, Abnormality o... |
ORPHA:93359 |
Familial Osteodysplasia, Anderson Type |
|
Bifid femur, Increased susceptibility to fractures, Aplastic clavicle, Abnormal cortical bone mor... |
ORPHA:2769 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Small epiphyses, Proximal femoral epiphysiolysis, Narrow pelvis bone, Craniosynostosis, Platyspon... |
OMIM:616723 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Renal agenesis, Complete atrioventricu... |
OMIM:264480 |
Meckel Syndrome, Type 2 |
|
Meningocele, Intrauterine growth retardation, Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Micrognathia, Talipe... |
OMIM:211920 |
Dent Disease |
|
Enlarged epiphyses, Thin bony cortex, Rickets, Bowing of the legs, Abnormality of the lower limb,... |
ORPHA:1652 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Diaphyseal dysplasi... |
OMIM:231095 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Anomalous branches of internal ca... |
ORPHA:363705 |
Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly |
ORPHA:85174 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Femoral bowing, Tibial bowing, Platyspondyly, Flexion contracture, Cervical kyphosis, Joint stiff... |
OMIM:245160 |
Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Hydronephrosis, Buphthalmos, Intrauterine growth retardation, Pigmentary retino... |
OMIM:618460 |
Joubert Syndrome 6 |
|
Chorioretinal coloboma, Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Nephrono... |
OMIM:610688 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Hydronephrosis, Mild postnatal growth retardation, Ventricular septal defect, P... |
OMIM:235510 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... |
ORPHA:93356 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like vertebral bodi... |
OMIM:151210 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Nephrotic syndrome, Ascites, Abnormality of the urinary system, Myositis, H... |
ORPHA:93552 |
Senior-Loken Syndrome |
|
Abnormality of bone mineral density, Cone-shaped epiphysis |
ORPHA:3156 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Abn... |
OMIM:252011 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Short stature, Mitral stenosis, Atrial septal defect, Aortic valve stenosis, Hy... |
OMIM:617660 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurrent fracture... |
OMIM:615220 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... |
OMIM:226980 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chylopericardium, Growth delay, Ascites, Pulmonary arterial hypertension, Tricuspid... |
ORPHA:2414 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Short stature, Renal dysplasia, Telangiectasia of the skin, Cryptorchidism, Hyp... |
ORPHA:85321 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation,... |
ORPHA:96170 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, G... |
ORPHA:37553 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly |
ORPHA:1345 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Hematuria, Microphthalmia |
OMIM:120433 |
H Syndrome |
|
Hallux valgus, Pes planus, Hepatosplenomegaly, Microcytic anemia, Camptodactyly, Recurrent fractu... |
ORPHA:168569 |
Geroderma Osteodysplastica |
|
Biconcave vertebral bodies, Talipes, Abnormality of epiphysis morphology, Beaking of vertebral bo... |
ORPHA:2078 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Femur fracture |
OMIM:612301 |
Erdheim-Chester Disease |
|
Abnormality of epiphysis morphology, Weight loss, Anemia, Abnormality of the metaphysis, Osteomye... |
ORPHA:35687 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Tapered finger, Irregular vertebral endplates, Obesity, Metaphyseal irregularit... |
OMIM:618395 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Short femur, Scoliosis, Foot oligodactyly |
OMIM:601357 |
Mixed Connective Tissue Disease |
|
Leukopenia, Arthritis, Splenomegaly, Joint stiffness, Hemolytic anemia, Osteolysis |
ORPHA:809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Muscular dystrophy, Retinal detachment... |
OMIM:614643 |
Biemond Syndrome Type 2 |
|
Hypospadias, Microphthalmia, Short stature, Coloboma, Delayed puberty |
ORPHA:141333 |
Atelosteogenesis, Type Ii |
|
Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebr... |
OMIM:256050 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Microphthalmia, Retinal fold, Phthisis bulbi, Iris coloboma, ... |
OMIM:221900 |
Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Multiple prenatal fractures, Type 1 collagen overmodification, Oste... |
OMIM:610915 |
Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Anterior beaking of lumbar vertebrae, Kyphosis |
OMIM:230650 |
Osteogenesis Imperfecta, Type Vi |
|
Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility to fractures, V... |
OMIM:613982 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Abnormality of the metaphysis, Platyspondyly, Coarse metaphyseal t... |
ORPHA:1782 |
Cantu Syndrome |
|
Metaphyseal widening, Broad first metatarsal, Osteoporosis, Platyspondyly, Large for gestational ... |
OMIM:239850 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Thrombocytopenia, H... |
OMIM:263700 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Decreased response to growth hor... |
OMIM:617784 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Renal dysplasia, Prolonged neonatal jaundice, Ventricular s... |
OMIM:118450 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Bicuspid aortic valve, Short stature, Unilateral microphthalmos, Coloboma, Bila... |
OMIM:619318 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Splenomegaly, Osteopenia, Rickets |
OMIM:211600 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Warburg Micro Syndrome 4 |
|
Optic atrophy, Decreased muscle mass, Microphthalmia, Severe postnatal growth retardation, Short ... |
OMIM:615663 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Short stature |
OMIM:257910 |
Thalidomide Embryopathy |
|
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... |
ORPHA:3312 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Reduced bone mineral density, Pathologic fracture, Osteomalacia, Hypophosphat... |
ORPHA:157215 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Renal hypoplasia, Hydronephrosis, Short stature, Umbilical hernia, Congenital diaphragmatic herni... |
OMIM:618454 |
Spondylometaphyseal Dysplasia, Axial |
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Proximal femoral metaphyseal irregularity, Rhizomelia, Platyspondyly, Splenomegaly, Coxa vara, Sh... |
OMIM:602271 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Hajdu-Cheney Syndrome |
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Absent frontal sinuses, Splenomegaly, Short toe, Micrognathia, Partial absence of toe, Bowing of ... |
ORPHA:955 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Nphp3-Related Meckel-Like Syndrome |
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Renal dysplasia, Polyhydramnios, Abnormal liver parenchyma morphology, Abnormal biliary tract mor... |
ORPHA:3032 |
X-Linked Hypophosphatemia |
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Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... |
ORPHA:89936 |
Osteogenesis Imperfecta, Type Xvii |
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Vertebral compression fracture, Osteoporosis, Scoliosis, Platyspondyly |
OMIM:616507 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Chorioretinal coloboma, Growth delay, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypo... |
ORPHA:137902 |
Renal And Mullerian Duct Hypoplasia |
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Horseshoe kidney, Renal hypoplasia, Severe postnatal growth retardation, Anteriorly displaced ure... |
OMIM:266810 |
Alkuraya-Kucinskas Syndrome |
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Pericardial effusion, Webbed neck, Edema, Arthrogryposis multiplex congenita, Micropenis, Camptod... |
OMIM:617822 |
Cockayne Syndrome Type 3 |
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Subdural hemorrhage, Aortic root aneurysm, Premature coronary artery atherosclerosis, Increased b... |
ORPHA:90324 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Micrognathia, Coxa valga, Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporo... |
ORPHA:1901 |
Osteogenesis Imperfecta, Type Xvi |
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Small for gestational age, Rhizomelia, Osteopenia, Joint hypermobility, Mesomelia |
OMIM:616229 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Oculo-Palato-Cerebral Syndrome |
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Microphthalmia, Intrauterine growth retardation, Short stature, Retinal detachment, Remnants of t... |
ORPHA:2714 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Pallister-Hall Syndrome |
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Renal hypoplasia, Hydronephrosis, Ventricular septal defect, Intrauterine growth retardation, Thy... |
OMIM:146510 |
Dysosteosclerosis |
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Increased intervertebral space, Short ribs, Absent frontal sinuses, Progressive bowing of long bo... |
OMIM:224300 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ne... |
OMIM:271510 |
Hardikar Syndrome |
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Cholangitis, Short stature, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly,... |
OMIM:301068 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Nephrocalcinosis, Abnormal r... |
ORPHA:73224 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Hypospadias, Renal hypoplasia, Hepatic fibrosis, Ascites, Short stature, Renal cyst, Polycystic k... |
OMIM:614091 |
Q Fever |
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Myocarditis, Hepatomegaly, Abnormal vascular morphology, Pericarditis, Pericardial effusion, Endo... |
ORPHA:781 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Decreased circulating antibody level... |
OMIM:617425 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Platyspondyly |
ORPHA:85172 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... |
ORPHA:300751 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Pathologic fracture |
OMIM:179800 |
Gm1-Gangliosidosis, Type Ii |
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Coxa valga, Platyspondyly, Sea-blue histiocytosis |
OMIM:230600 |
Lymphatic Malformation 8 |
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Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
Faciocardiomelic Syndrome |
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Micrognathia, Thin bony cortex, Polydactyly, Large for gestational age, Osteopenia, Slender long ... |
OMIM:612731 |
Microphthalmia With Limb Anomalies |
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Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Synostosis of join... |
ORPHA:1106 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Microphthalmia, Hydroureter, Patent ductus arteriosus, Polyhydramnios, Abnormality of the upper u... |
ORPHA:2547 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
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Premature osteoarthritis, Platyspondyly |
OMIM:184840 |
Schimke Immunoosseous Dysplasia |
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Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Platyspondyly, Os... |
OMIM:242900 |
Kniest Dysplasia |
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Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Dela... |
OMIM:156550 |
Left Ventricular Noncompaction 10 |
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Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Trisomy 13 |
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Optic atrophy, Hydronephrosis, Abnormality of the ureter, Intrauterine growth retardation, Ventri... |
ORPHA:3378 |
Acrorenal Syndrome, Autosomal Recessive |
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Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |