A condition marked by the presence of multiple osteochondromas.
[OCOSH Code: D018216 254044004 M9210/1 BD_DBD_OCDYS_OC_OC]
- Multiple Hereditory Exostoses (9)
- 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.
MeSH Term "Exostoses, Multiple Hereditary"[mesh]
ICD-10 Code Q78.6 Multiple congenital exostoses
Multiple congenital exostosis (disorder) Concept ID: 254044004
Many Synonyms including
Hereditary Deforming Chondrodysplasia
Comment: this condition is not recognised as distinct from osteochondromatosis by SNOMED or ICD-10 but is by MeSH and OMIM
OCOSH Code: D005097 254044004 Q78.6 BD_DBD_OCDYS_OC_OC_MHE
EXOSTOSES, MULTIPLE, TYPE I
MULTIPLE CARTILAGINOUS EXOSTOSES
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...
Added: Sun Dec 10 2006