Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias Terms and Definitions




Osteochondrodysplasias

Medical Definition: Abnormal development of cartilage and bone.
Guide Notes: abnorm develop of cartilage & bone
Also Called: Dyschondroplasias,Hyperostosis Corticalis Generalisata,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia
Previously Indexed: Bone Diseases (1966-1969),Bone Diseases, Developmental (1970-1984)
Osteochondrodysplasias Categories.
Canadian Medical Guide Definition Acquired Hyperostosis Syndrome - Syndrome consisting of synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis (SAPHO). The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
Canadian Medical Guide Definition Chondrodysplasia Punctata - A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Canadian Medical Guide Definition Cleidocranial Dysplasia - A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies. (From Dorland, 27th ed)
Canadian Medical Guide Definition Diaphyseal Dysplasia, Progressive - Progressive thickening of diaphyseal cortex of long bones.
Canadian Medical Guide Definition Ellis-Van Creveld Syndrome - Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
Canadian Medical Guide Definition Enchondromatosis - Benign growths of cartilage in the metaphyses of several bones.
Canadian Medical Guide Definition Fibrous Dysplasia of Bone - A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). (From Dorland, 28th ed)
Canadian Medical Guide Definition Hyperostosis Frontalis Interna - Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause.
Canadian Medical Guide Definition Hyperostosis, Cortical, Congenital - A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)
Canadian Medical Guide Definition Langer-Giedion Syndrome - Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Canadian Medical Guide Definition Osteogenesis Imperfecta - Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.
Canadian Medical Guide Definition Osteosclerosis - An abnormal hardening or increased density of bone tissue.
Canadian Medical Guide Definition Short Rib-Polydactyly Syndrome - A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Osteochondrodysplasias Medical Definitions and Terms

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