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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
Substance
CAS Registry & name
Categories
Source
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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