Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... |
ORPHA:1802 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
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 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture |
OMIM:174810 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Hyaline Fibromatosis Syndrome |
|
Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion... |
OMIM:228600 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... |
ORPHA:166277 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
Dysplastic Cortical Hyperostosis |
|
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... |
ORPHA:2204 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Weight loss, Anemia |
ORPHA:100024 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Osteolysis |
ORPHA:2776 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... |
ORPHA:668 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... |
ORPHA:1525 |
Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Abnormal diaphysis morphology, Osteolysis, Progressive flexion contractures |
ORPHA:2028 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Dermatoosteolysis, Kirghizian Type |
|
Joint contracture of the hand, Flexion contracture, Split hand, Osteolysis, Ankle swelling, Broad... |
OMIM:221810 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
Rosaï-Dorfman Disease |
|
Anemia, Osteolysis |
ORPHA:158014 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... |
ORPHA:73 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Metatropic Dysplasia |
|
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Thin bony cortex, Pes planus, Broad thumb, Rhizomelia, Short 4th metacarpal, Shor... |
OMIM:619638 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Caffey Disease |
|
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... |
ORPHA:1310 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
Nephrosialidosis |
|
Nephrotic syndrome, Death in childhood, Nephropathy, Renal insufficiency, Bone-marrow foam cells,... |
OMIM:256150 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... |
OMIM:604864 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Camptodactyly of finger, Micrognathia, Slender long bone, Osteolysis, Carpal osteolysis... |
ORPHA:2774 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... |
OMIM:619795 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Ollier Disease |
|
Joint stiffness, Micromelia, Osteolysis, Abnormal metaphysis morphology, Anemia |
ORPHA:296 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Ramon Syndrome |
|
Failure to thrive, Osteolysis |
ORPHA:3019 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Osteolysis |
ORPHA:494 |
Tenosynovial Giant Cell Tumor |
|
Joint stiffness, Abnormality of the ankles, Abnormal hip joint morphology, Osteolysis, Abnormal s... |
ORPHA:66627 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Decreased skull ossification, Bowing of the long ... |
ORPHA:2097 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity |
OMIM:264010 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Ost... |
ORPHA:93160 |
Ck Syndrome |
|
Slender build, Micrognathia, Abnormal digit morphology, Joint hypermobility, Abnormal cortical bo... |
OMIM:300831 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Scoliosis, Arthritis, Osteo... |
ORPHA:324964 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Proteinuria, Hypoplasia of the ciliary body, Microphthalmia, Skeleta... |
OMIM:609049 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l... |
OMIM:602080 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... |
ORPHA:94068 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Generalized joint laxity,... |
OMIM:132400 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Pedal edema, Increased bone mineral density |
ORPHA:75325 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck |
OMIM:616583 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Dermatoosteolysis, Kirghizian Type |
|
Osteoarthritis, Brachydactyly, Osteolysis, Abnormal foot morphology, Tarsal synostosis, Abnormal ... |
ORPHA:1657 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Hypoplastic left heart |
OMIM:236110 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Slender long bone, Abnormal cort... |
ORPHA:1486 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... |
OMIM:601560 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... |
OMIM:609052 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... |
ORPHA:1952 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Proteus Syndrome |
|
Hypertrophy of skin of soles, Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Mandibular ... |
OMIM:176920 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... |
OMIM:120200 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
Classic Hodgkin Lymphoma |
|
Weight loss, Osteolysis, Splenomegaly |
ORPHA:391 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis |
OMIM:256720 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
Bresek Syndrome |
|
Intrauterine growth retardation, Optic nerve hypoplasia, Hypoplasia of the bladder, Neonatal deat... |
ORPHA:85284 |
Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis, Micrognathia |
OMIM:176670 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Winchester Syndrome |
|
Broad metacarpals, Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis |
OMIM:277950 |
Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ankles, Abn... |
ORPHA:2619 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
ORPHA:50809 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral neck, Thin bony cortex, S... |
ORPHA:85184 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Joubert Syndrome 22 |
|
Coloboma, Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Retinal dysplasia |
OMIM:615665 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Micrognathia, Thin bony cortex, Joint laxity, Bowing of the ... |
OMIM:617952 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency, Short stature |
OMIM:618681 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... |
OMIM:611555 |
Frank-Ter Haar Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Genu recurvatum, Camptodactyly of finger, Brachy... |
ORPHA:137834 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Patho... |
ORPHA:98850 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused cervical verte... |
OMIM:612852 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux |
OMIM:615923 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:614377 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Desmoid Tumor |
|
Osteolysis, Limitation of joint mobility |
ORPHA:873 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Hyperechogenic kidneys, Renal hypoplasia, Microphthalmia |
OMIM:617914 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Renal agenesis, Coloboma, Renal cyst, Renal hy... |
OMIM:615583 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Elevated circulating creatine kinase concentration, Abnormality of the ve... |
ORPHA:52430 |
Melorheostosis |
|
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Lowe... |
ORPHA:2485 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:277440 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Renal tubular acidosis, Atrial s... |
OMIM:610205 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Hypoplastic left heart, Short stature, Unilateral renal agenesis, Rhizome... |
OMIM:617661 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing |
OMIM:615066 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Hydranencephaly, Renal cyst, Renal hypoplasia... |
OMIM:236500 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Macular degeneration, Morning glory anomaly, H... |
OMIM:120330 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal vertebral morphology, Restricted large joint movement, Platyspondyly |
ORPHA:163665 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Renal hypoplasia, Intrauterine growth retardation |
OMIM:617564 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... |
ORPHA:1426 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... |
OMIM:609324 |
Felty Syndrome |
|
Limitation of joint mobility, Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis... |
ORPHA:47612 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Small for gestational age, Short femur, Osteopen... |
OMIM:616897 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... |
ORPHA:157965 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmune h... |
ORPHA:100026 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Optic atrophy, Thickened glomerular basement membrane, Proteinuria, Pericarditis, I... |
OMIM:619487 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... |
OMIM:156510 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Rickets |
OMIM:146350 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Flattened femoral head, Coxa vara, Hump-shaped mound of bone in central and post... |
ORPHA:99642 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular s... |
OMIM:612946 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Microphthalmia, Oligohydr... |
OMIM:619053 |
Progressive Pseudorheumatoid Dysplasia |
|
Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal... |
OMIM:208230 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin level, Osteopenia, Cam... |
ORPHA:356961 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... |
ORPHA:1190 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, Subperiosteal bone re... |
ORPHA:289157 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Coxa vara, Fibrous dysplasia of the bones, Abnormal morphology o... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of carpal bone... |
ORPHA:93351 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthr... |
ORPHA:371428 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Limb undergrowth, Brachydactyly, Micromelia, Massively thickened long bone cortices |
OMIM:122900 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Anemia, Small hand, Osteoporosis, Genu varum, Arthritis, Osteolysis,... |
ORPHA:2796 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... |
ORPHA:1988 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... |
OMIM:112350 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Duchenne And Becker Muscular Dystrophy |
|
Joint stiffness, Reduced bone mineral density, Elevated circulating creatine kinase concentration... |
ORPHA:262 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Hyperextensibility of the finger jo... |
OMIM:610967 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... |
ORPHA:85435 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Osteomalacia, Abnormality of the lower limb, Rickets |
OMIM:193100 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Renal hypoplasia, Abnormality of ... |
ORPHA:2256 |
Oligomeganephronia |
|
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... |
ORPHA:2260 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... |
OMIM:601186 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... |
OMIM:618914 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... |
OMIM:608776 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly |
ORPHA:1114 |
Monosomy 5P |
|
Recurrent fractures, Microretrognathia, Small hand, Abnormality of bone mineral density, Joint hy... |
ORPHA:281 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Sea-blue histiocytosis, Failure to thrive, Hypoplastic vertebral bodies, Splenom... |
OMIM:230600 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... |
ORPHA:1508 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Osteolysis, Ankylosis |
ORPHA:659 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susce... |
OMIM:146300 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... |
OMIM:619489 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... |
OMIM:618363 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, Pathologic ... |
ORPHA:77259 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Short stature, Iris coloboma, Abnormal localization of kidney, Hydronep... |
ORPHA:195 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,... |
ORPHA:2741 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Even-Plus Syndrome |
|
Atrial septal defect, Severe short stature, Recurrent urinary tract infections, Renal hypoplasia,... |
OMIM:616854 |
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 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... |
ORPHA:56304 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... |
ORPHA:166011 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, Renal agenesis, Renal hypoplasia, Hydronephrosis, Cryptorchid... |
OMIM:618494 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... |
ORPHA:231736 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin bony cortex, Thin metacarpal cortices, Osteolysis involving tarsal bones, Metaca... |
OMIM:259600 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Splenomegaly |
ORPHA:882 |
Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Absent thumb,... |
OMIM:147750 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Atrial septal defect, Decreased response to growth hormone stimu... |
OMIM:609053 |
Hydrops Fetalis |
|
Miscarriage, Abnormality of the kidney, Abnormality of the urinary system, Nonimmune hydrops feta... |
ORPHA:1041 |
Renal Coloboma Syndrome |
|
Retinal coloboma, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Renal... |
ORPHA:1475 |
Senior-Boichis Syndrome |
|
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... |
ORPHA:84081 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Hypocalcemia, Small for gestational ... |
OMIM:607143 |
Bruck Syndrome 1 |
|
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... |
OMIM:259450 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibro... |
OMIM:616589 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the clavicles, Micrognathia, Abnormal finge... |
ORPHA:90154 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... |
OMIM:618728 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Femoral bowing, Short ribs |
OMIM:618188 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Aminoaciduria, Flexion contracture, Death in childhood, Camptodactyly, Renal hypopl... |
OMIM:604273 |
Dyssegmental Dysplasia With Glaucoma |
|
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Plat... |
OMIM:601561 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia,... |
ORPHA:1860 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Matthew-Wood Syndrome |
|
Annular pancreas, Intrauterine growth retardation, Congenital diaphragmatic hernia, Aplasia/Hypop... |
ORPHA:2470 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Tricuspid regurgitation |
OMIM:600151 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis, Platyspondyly |
OMIM:271600 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal interphalangea... |
OMIM:601559 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Anencephaly, Ventricular septal defect, Renal cyst, Meningocele, Microphtha... |
OMIM:611134 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Short neck... |
OMIM:251230 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Supernumerary nipple, Chronic tubulointerstitial nephritis, Short stature, Attenuat... |
OMIM:614376 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Pericardial effusion, Micropenis |
OMIM:614684 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Plat... |
OMIM:313420 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Chondroectodermal Dysplasia With Night Blindness |
|
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Ost... |
ORPHA:319195 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... |
OMIM:108720 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Osteopenia, Flared metaphysis, Genu varum |
OMIM:619073 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Flexion contracture, Aplasia/Hypoplasia of the clavicles, Acroost... |
ORPHA:90153 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... |
OMIM:184252 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Osteoporosis, Femoral bowing |
OMIM:126550 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Angioedema, Proteinuria, Pleural effusion,... |
ORPHA:36412 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Orofaciodigital Syndrome Xvii |
|
Short stature, Renal hypoplasia, Tetralogy of Fallot, Micropenis |
OMIM:617926 |
Distal Trisomy 6P |
|
Aplasia/Hypoplasia affecting the eye, Short stature, Abnormality of the urinary system, Renal hyp... |
ORPHA:1745 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Short stature, Posterior pituitary hypoplasia, Ventricular septal defect, R... |
ORPHA:75389 |
Nestor-Guillermo Progeria Syndrome |
|
Joint stiffness, Failure to thrive, Microretrognathia, Flexion contracture, Micrognathia, Osteopo... |
OMIM:614008 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Osteopenia, Femoral bowing, Elbow flexion contracture, ... |
OMIM:609220 |
Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Osteolysis, Flexion contracture, Arthritis |
ORPHA:220393 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty, Abnormal heart morphology |
OMIM:233270 |
Farber Lipogranulomatosis |
|
Failure to thrive, Splenomegaly, Hyperextensibility of the finger joints, Arthritis, Osteolytic d... |
OMIM:228000 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Patent ductus arteriosus, Umbilical he... |
ORPHA:171839 |
Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Knee dislocation, Distal tapering fem... |
ORPHA:56305 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Camptodactyly |
OMIM:246560 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Abnormal spleen morph... |
ORPHA:464329 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, Coloboma, Optic atrophy, Microphthalmia, Growth delay |
OMIM:274270 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... |
OMIM:184260 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Short stature, Unilateral renal agenesis, Ventricular septal defect, Renal ... |
OMIM:608572 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Ventricular septal defect, Cont... |
OMIM:300166 |
Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Micropenis, Pulmoni... |
OMIM:609029 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Microphthalmia, Phthisis bulbi, Buphthalmos, Hyaloid vas... |
ORPHA:91495 |
Chromomycosis |
|
Abnormality of the lower limb, Osteolysis, Abnormal foot morphology, Ankylosis |
ORPHA:182 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Sapho Syndrome |
|
Recurrent fractures, Osteomyelitis, Arthritis, Osteolysis, Hyperostosis, Enthesitis, Craniofacial... |
ORPHA:793 |
Papillon-Lefèvre Syndrome |
|
Arachnodactyly, Palmoplantar hyperkeratosis, Osteolysis, Palmoplantar keratoderma, Liver abscess,... |
ORPHA:678 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... |
ORPHA:198 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Platyspondyly,... |
OMIM:234250 |
Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Stillbirth, Abnormal heart morphology |
OMIM:276950 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Absence of renal corticomedullary differentiation, Micropenis, U... |
OMIM:617641 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal agenesis, Renal hypoplasia, Arthrogryposis multiplex congenita, Oligoh... |
OMIM:616258 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Coloboma, Renal hypoplasia, Pseudohypoparathyroidism, Vesicoureteral reflux |
ORPHA:464288 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa vara, Bowing of the legs, Bowing of the arm, Platyspondyly, Osteoporosi... |
OMIM:619131 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Micropenis, Hypospadias, Camptodactyly, Dextrocardia, Renal hypopl... |
OMIM:248700 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Decreased body weight, Wide anterior fontanel |
OMIM:614886 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Flexion contracture, Hepatosplenomegaly, Optic atrophy, Renal hypop... |
ORPHA:135 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... |
OMIM:601668 |
Stüve-Wiedemann Syndrome |
|
Recurrent fractures, Flexion contracture of finger, Talipes equinovarus, Flexion contracture, Ost... |
ORPHA:3206 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Hepatomegaly, Rod-cone dystrophy, Flexion contracture, Death in childhood, No... |
OMIM:212065 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricula... |
OMIM:619167 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Metaphyseal irregularity, Kyphosis, Beaking of vertebral ... |
OMIM:607326 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... |
OMIM:611590 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Renal hypoplasia, Prominent superficial veins, Delayed puberty, Growth delay, Cryp... |
OMIM:616817 |
Birk-Landau-Perez Syndrome |
|
Intrauterine growth retardation, Stage 3 chronic kidney disease, Limb hypertonia, Hyperechogenic ... |
OMIM:617595 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesis, Encephalocele, Coarctation o... |
OMIM:264480 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... |
ORPHA:93346 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets |
ORPHA:89937 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Microphthalmia, Retinal coloboma, Renal agenesis, Pectoralis hypoplasia, Sm... |
OMIM:607323 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Arthralgia of the hip, Abnormal hand morphology, Upper limb undergrowth, Genu v... |
ORPHA:93307 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Fanconi Anemia, Complementation Group F |
|
Intrauterine growth retardation, Atrial septal defect, Decreased response to growth hormone stimu... |
OMIM:603467 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, Br... |
OMIM:618961 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... |
OMIM:211350 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology, Femur fracture |
OMIM:612301 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Anencephaly, Renal cyst, Meningocele, Bile duct proliferation, Encephalocele, Int... |
OMIM:603194 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly |
ORPHA:93283 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... |
ORPHA:85198 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs... |
OMIM:201170 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the... |
ORPHA:2769 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Edema, Microphthalmia |
OMIM:616570 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
ORPHA:1652 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Narrow greater sciatic notch, Short ribs, Scol... |
ORPHA:168549 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility |
ORPHA:168555 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... |
OMIM:231095 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Rickets |
OMIM:615605 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Senior-Loken Syndrome |
|
Cone-shaped epiphysis, Abnormality of bone mineral density |
ORPHA:3156 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... |
OMIM:184100 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Talipes equinovarus, Osteopenia, Camptodactyly of finger, Micrognathia, Brachydactyly, Short neck... |
OMIM:211920 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets |
OMIM:613388 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... |
OMIM:619924 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Anterior bowing of long bones,... |
OMIM:255800 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... |
ORPHA:2771 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... |
ORPHA:37553 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Khan-Khan-Katsanis Syndrome |
|
Intrauterine growth retardation, Tricuspid regurgitation, Flexion contracture, Short stature, Bup... |
OMIM:618460 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Muscular dystrophy, Retinal deta... |
OMIM:614643 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Nephritis, Raynaud phenomenon, Abnormality of the urinary system,... |
ORPHA:93552 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Joint contracture of the hand, Mild postnatal growth retardation, Thyroid l... |
OMIM:235510 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... |
ORPHA:1427 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Short ... |
OMIM:259440 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Renal cyst, Microphthalmia, Bile duct proliferation, Occipital encephalocele |
OMIM:611561 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Hematuria, Prolonged QTc interval |
ORPHA:231111 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... |
OMIM:245160 |
Erdheim-Chester Disease |
|
Osteomyelitis, Increased bone mineral density, Osteolysis, Weight loss, Abnormal epiphysis morpho... |
ORPHA:35687 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Pigmentary retinopathy, Optic... |
OMIM:252011 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fontanel, Slende... |
ORPHA:163649 |
Mungan Syndrome |
|
Tricuspid regurgitation, Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembrano... |
OMIM:611376 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Hematuria, Coloboma |
OMIM:120433 |
H Syndrome |
|
Histiocytosis, Recurrent fractures, Hepatosplenomegaly, Camptodactyly, Pes planus, Osteolysis, Mi... |
ORPHA:168569 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
Emanuel Syndrome |
|
Multiple joint contractures, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmati... |
ORPHA:96170 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Platy... |
OMIM:300863 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Short statu... |
OMIM:617660 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Ar... |
OMIM:614856 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... |
OMIM:301068 |
Mixed Connective Tissue Disease |
|
Joint stiffness, Splenomegaly, Leukopenia, Arthritis, Hemolytic anemia, Osteolysis |
ORPHA:809 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Platyspondyly, Short f... |
OMIM:616723 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis |
ORPHA:71267 |
Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemolytic anemia, O... |
OMIM:263700 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets, Splenomegaly |
OMIM:211600 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin, Hypoplasia of penis, Short stature, Renal dysplasia, Renal hypoplasia... |
ORPHA:85321 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Iris... |
OMIM:221900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Failure to thrive, Dislocated radial head, Beaking of vertebral bodies, Talipes equinovarus, Kyph... |
ORPHA:93359 |
Joubert Syndrome 6 |
|
Retinal degeneration, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Stage 5 chroni... |
OMIM:610688 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni... |
OMIM:617784 |
Biemond Syndrome Type 2 |
|
Short stature, Hypospadias, Coloboma, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Papilledema, Ventricular septal defect, Bradycardia, Persistent left superior ven... |
OMIM:618775 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Short stature, Unilateral microphthalmos, Coloboma, Horseshoe kidney, Bila... |
OMIM:619318 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux, Optic disc hypoplasia, Dilation of Virchow-Ro... |
OMIM:619955 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Foot oligodactyly, Amelia, Short femur |
OMIM:601357 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... |
ORPHA:3032 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets |
OMIM:267200 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Retinal degeneration, Stroke, Premature coronary artery atherosclerosis, Subdural h... |
ORPHA:90324 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short neck, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Bowing of the... |
ORPHA:93267 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Biconcave vertebral bodies, Osteolysis, Bowing of the long bones, Patella... |
ORPHA:955 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Short stature, Microphthalmia |
OMIM:257910 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... |
ORPHA:157215 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Supernumerary nipple, Congenital diaphragmatic hernia, Short ... |
OMIM:618454 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... |
OMIM:607361 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... |
ORPHA:137902 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Coxa valga, Osteopenia, Micrognathia, Osteomalacia, Osteoporosis, Ava... |
ORPHA:1901 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Severe limb shortening, Decreased cranial base ossification, Short ribs, Hyp... |
OMIM:151210 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Short metacarpal, Wide anterior font... |
OMIM:610915 |
Dyggve-Melchior-Clausen Disease |
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Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
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Secundum atrial septal defect, Absence of renal corticomedullary differentiation, Hepatic failure... |
OMIM:619758 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... |
ORPHA:89936 |
Cantu Syndrome |
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Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... |
OMIM:239850 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Rena... |
OMIM:266810 |
Kniest Dysplasia |
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Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Coronal cleft vertebr... |
OMIM:156550 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Short stature, Retinal detachment, Microphthalmia, Intra... |
ORPHA:2714 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
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Irregular vertebral endplates, Irregular tarsal ossification, Cone-shaped epiphyses of the phalan... |
OMIM:226980 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Alagille Syndrome 1 |
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Exocrine pancreatic insufficiency, Stroke, Hepatic failure, Reduced number of intrahepatic bile d... |
OMIM:118450 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Q Fever |
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Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... |
ORPHA:781 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Hepatic calcification... |
ORPHA:73224 |
Microphthalmia With Limb Anomalies |
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Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Dysosteosclerosis |
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Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... |
ORPHA:1782 |
Pallister-Hall Syndrome |
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Distal urethral duplication, Microphthalmia, Decreased response to growth hormone stimulation tes... |
OMIM:146510 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... |
ORPHA:300751 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Short stature, Hypospadias, Hydrops fetalis, Renal cyst, Polycystic kidney dysplasia, Renal hypop... |
OMIM:614091 |
Faciocardiomelic Syndrome |
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Osteopenia, Micrognathia, Polydactyly, Slender long bone, Thin bony cortex, Large for gestational... |
OMIM:612731 |
Lymphatic Malformation 8 |
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Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Pseudodiastrophic Dysplasia |
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Platyspondyly, Scoliosis |
ORPHA:85174 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... |
ORPHA:2547 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Geroderma Osteodysplastica |
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Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... |
ORPHA:2078 |
Gaucher Disease Type 3 |
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Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... |
ORPHA:77261 |
Trisomy 13 |
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Atrial septal defect, Abnormal retinal vascular morphology, Abnormality of the ureter, Hydrops fe... |
ORPHA:3378 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Lacticaciduria... |
OMIM:619003 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Retinal detachment, Hematuria, Optic atrophy, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:1473 |
Spondyloperipheral Dysplasia |
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Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
12Q14 Microdeletion Syndrome |
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Intrauterine growth retardation, Short stature, Abnormality of the spleen, Renal hypoplasia, Hors... |
ORPHA:94063 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Exocrine pancreatic insufficiency, Atrioventricular canal defect, Ventricular septal defect, Hors... |
ORPHA:508498 |
Infantile Systemic Hyalinosis |
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Recurrent fractures, Joint stiffness, Failure to thrive, Osteopenia, Camptodactyly of finger, Ost... |
ORPHA:2176 |
Fanconi Anemia, Complementation Group O |
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Miscarriage, Short stature, Small thenar eminence, Neonatal death, Renal cyst, Death in infancy, ... |
OMIM:613390 |
Anauxetic Dysplasia 1 |
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Hip contracture, Short toe, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoax... |
OMIM:607095 |
Atelosteogenesis, Type Ii |
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Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Bifid humerus, Increased inte... |
OMIM:256050 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
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Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypoplasia, Renal dysplasia |
OMIM:601389 |
Idiopathic Hypercalciuria |
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Osteopenia, Osteoporosis |
ORPHA:2197 |
Chime Syndrome |
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Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Abnormal epiphysis morphology... |
ORPHA:3474 |
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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Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... |
ORPHA:731 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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