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Osteochondrodysplasias

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Definition: Abnormal development of cartilage and bone.  abnorm develop of cartilage & bone   
Examples Achondroplasia; Acquired Hyperostosis Syndrome; Camurati-Engelmann Syndrome; Chondrodysplasia Punctata; Cleidocranial Dysplasia; Ellis-Van Creveld Syndrome; Enchondromatosis; Fibrous Dysplasia of Bone; Hyperostosis, Cortical, Congenital; Hyperostosis Frontalis Interna; Kashin-Beck Disease; Langer-Giedion Syndrome; Osteochondroma; Osteogenesis Imperfecta; Osteosclerosis; Pycnodysostosis; Short Rib-Polydactyly Syndrome; Slipped Capital Femoral Epiphyses 		Other names Spondyloepiphyseal Dysplasia; Schwartz-Jampel Syndrome; Multiple Epiphyseal Dysplasia; Melnick-Needles Syndrome; Hyperostosis Corticalis Generalisata; Dyschondroplasias; Syndrome, Schwartz-Jampel; Syndrome, Melnick-Needles; Spondyloepiphyseal Dysplasias; Schwartz Jampel Syndrome; Osteodysplasty, Melnick-Needles; Osteochondrodysplasia; Multiple Epiphyseal Dysplasias; Melnick Needles Syndrome; Melnick Needles Osteodysplasty; Epiphyseal Dysplasias, Multiple; Epiphyseal Dysplasia, Multiple; Dysplasias, Spondyloepiphyseal; Dysplasias, Multiple Epiphyseal; Dysplasia, Spondyloepiphyseal
 
SubstanceCAS Registry & nameCategoriesSource
Auriculoosteodysplasia  0   *Growth Disorders *Osteochondrodysplasias Ear/abnormalities.
Anauxetic dysplasia  0   *Dwarfism *Osteochondrodysplasias.
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia  0   *Osteochondrodysplasias. Am J Med Genet. 84(1):68-73
Acrodysplasia scoliosis  0   *Osteochondrodysplasias *Scoliosis.
Acrodysostosis  0   *Dysostoses *Intellectual Disability *Osteochondrodysplasias.
Oto-palato-digital syndrome, type 2  0   *Hand Deformities, Congenital *Osteochondrodysplasias *Craniofacial Abnormalities.
Frontometaphyseal dysplasia  0   *Osteochondrodysplasias Forehead/abnormalities.
Chondrodysplasia, Grebe type  0   *Musculoskeletal Abnormalities *Osteochondrodysplasias.
Chondrodysplasia, blomstrand type  0   *Exostoses, Multiple Hereditary *Osteochondrodysplasias.
Larsen syndrome, dominant type  0   *Cleft Lip *Cleft Palate *Dislocations/congenital *Osteochondrodysplasias *Tooth Abnormalities *Craniofacial Abnormalities.
Laplane Fontaine Lagardere syndrome  0   *Dwarfism *Joint Diseases *Osteochondrodysplasias *Spinal Diseases.
Omodysplasia type 1  0   *Growth Disorders *Osteochondrodysplasias/congenital.
Microcephalic osteodysplastic primordial dwarfism, type 2  0   *Dwarfism *Fetal Growth Retardation *Microcephaly *Osteochondrodysplasias.
Microcephalic osteodysplastic primordial dwarfism, type 1  0   *Dwarfism *Fetal Growth Retardation *Microcephaly *Osteochondrodysplasias.
Jequier Kozlowski skeletal dysplasia  0   *Abnormalities, Multiple *Arthrogryposis *Osteochondrodysplasias *Craniofacial Abnormalities.
Jansen type metaphyseal chondrodysplasia  0   *Osteochondrodysplasias.
Micromelic dysplasia, congenital, with dislocation of radius  0   *Facies *Osteochondrodysplasias Radius/abnormalities.
Micromelic dwarfism Fryns type  0   *Osteochondrodysplasias.
Kozlowski Tsuruta Taki syndrome  0   *Osteochondrodysplasias.
Kozlowski Celermajer Tink syndrome  0   *Dysostoses *Heart Defects, Congenital *Osteochondrodysplasias Spine/abnormalities Sulfotransferases/deficiency.
Stuve-Wiedemann syndrome  0   *Exostoses, Multiple Hereditary *Osteochondrodysplasias.
Strudwick syndrome  0   *Osteochondrodysplasias.
Metatropic dwarfism  0   *Dwarfism *Osteochondrodysplasias.
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth  0   *Osteochondrodysplasias.
Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands  0   *Osteochondrodysplasias.
Metaphyseal chondrodysplasia Spahr type  0   *Osteochondrodysplasias.
Metaphyseal chondrodysplasia Schmid type  0   *Osteochondrodysplasias.
Metaphyseal anadysplasia  0   *Osteochondrodysplasias *Limb Deformities, Congenital.
Mesomelic dwarfism Reinhardt Pfeiffer type  0   *Dwarfism *Osteochondrodysplasias Fibula/abnormalities Ulna/abnormalities.
Greenberg dysplasia  0   *Osteochondrodysplasias.
Ter Haar syndrome  0   *Heart Defects, Congenital *Osteochondrodysplasias/congenital *Craniofacial Abnormalities Developmental Disabilities.
Langer mesomelic dysplasia  0   *Growth Disorders *Osteochondrodysplasias.
Hypoparathyroidism-retardation-dysmorphism syndrome  0   *Abnormalities, Multiple *Growth Disorders *Hypoparathyroidism *Intellectual Disability *Osteochondrodysplasias *Seizures.
Nance Sweeney chondrodysplasia  0   *Abnormalities, Multiple *Osteochondrodysplasias *Spinal Diseases.
Opsismodysplasia  0   *Osteochondrodysplasias.
Short stature syndrome, Brussels type  0   *Growth Disorders/congenital *Osteochondrodysplasias Face/abnormalities.
Leri-Weil syndrome  0   *Growth Disorders *Osteochondrodysplasias.
Brachyolmia, recessive Hobaek type  0   *Osteochondrodysplasias *Limb Deformities, Congenital.
Brachyolmia  0   *Osteochondrodysplasias.
Faye-Petersen Ward Carey syndrome  0   *Hypertension *Osteochondrodysplasias *Agenesis of Corpus Callosum.
Lowry Wood syndrome  0   *Growth Disorders *Intellectual Disability *Microcephaly *Osteochondrodysplasias.
Tracheobronchopathia osteoplastica  0   *Osteochondrodysplasias *Tracheal Diseases.
Teebi Naguib Al Awadi syndrome  0   *Osteochondrodysplasias.
Ulna metaphyseal dysplasia syndrome  0   *Osteochondrodysplasias.
Wolcott-Rallison syndrome  0   *Diabetes Mellitus, Type 1 *Osteochondrodysplasias Epiphyses/abnormalities.
Sketetal dysplasia coarse facies mental retardation  0   *Intellectual Disability *Osteochondrodysplasias *Genetic Diseases, X-Linked.
Situs inversus totalis with cystic dysplasia of kidneys and pancreas  0   *Osteochondrodysplasias *Situs Inversus *Kidney Diseases, Cystic Pancreas/abnormalities.
Schneckenbecken dysplasia  0   *Osteochondrodysplasias.
Schimke immunoosseous dysplasia  0   *Arteriosclerosis *Immunologic Deficiency Syndromes *Nephrotic Syndrome *Osteochondrodysplasias *Pulmonary Embolism.
Boomerang dysplasia  0   *Dwarfism *Osteochondrodysplasias *Facies.
Trichoscyphodysplasia  0   *Ectodermal Dysplasia *Osteochondrodysplasias.
Verloes Van Maldergem Marneffe syndrome  0   *Osteochondrodysplasias Lens, Crystalline/abnormalities.
Verloes Bourguignon syndrome  0   *Amelogenesis Imperfecta *Osteochondrodysplasias.
Thoracolaryngopelvic dysplasia  0   *Abnormalities, Multiple *Asphyxia Neonatorum *Osteochondrodysplasias Larynx/abnormalities Pelvis/abnormalities Thorax/abnormalities.
Upington disease  0   *Osteochondrodysplasias.
CODAS syndrome  0   *Eye Abnormalities *Growth Disorders *Hip Dislocation, Congenital *Osteochondrodysplasias *Tooth Abnormalities *Craniofacial Abnormalities.
Cloverleaf skull micromelia thoracic dysplasia  0   *Bone Diseases *Osteochondrodysplasias Skull/abnormalities.
Cleidorhizomelic syndrome  0   *Osteochondrodysplasias Hip Joint/abnormalities Shoulder Joint/abnormalities.
Fairbank disease  0   *Foot Deformities, Congenital *Hand Deformities, Congenital *Osteochondrodysplasias.
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy  0   *Lipodystrophy *Osteochondrodysplasias *Subacute Sclerosing Panencephalitis.
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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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