Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Osteochondrodysplasia > Osteochondroma > Osteochondromatosis

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Multiple Hereditory Exostoses (8)
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. Many Synonyms including Hereditary Deforming Chondrodysplasia Familial Exostoses Diaphyseal Aclasis OCOSH Code C05.116.099.708.670.615.325_bd_dbd_ocdys_oc_oc_h

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Diaphyseal aclasis information Disease Database

Location: http://www.diseasesdatabase.com/ddb29635.htm

3 synonyms or equivalents were found. Diaphyseal aclasis aka/or Multiple congenital exostoses aka/or Osteochondromatosis "A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)" may cause or feature Symptoms and Signs Exostoses X-ray abnormalities Exostoses
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Multiple Hereditory Exostosis OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133700

EXOSTOSES, MULTIPLE, TYPE I Alternative titles MULTIPLE CARTILAGINOUS EXOSTOSES DIAPHYSEAL ACLASIS MULTIPLE OSTEOCHONDROMATOSIS Gene map locus 8q24.11-q24.13 multiple exostoses type I is caused by mutation in the gene encoding exostosin-1 (EXT1; 608177), which maps to chromosome 8q24. Multiple exostoses type II (133701) is caused by mutation in the gene encoding exostosin-2 (EXT2; 608210), on chromosome...
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View Details Visit Resource Review It Rate It Bookmark It Added: Sun Dec 10 2006