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A condition marked by the presence of multiple osteochondromas.
[OCOSH Code: D018216 254044004 M9210/1 BD_DBD_OCDYS_OC_OC]

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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
SNOMED-CT Term Multiple congenital exostosis (disorder) Concept ID: 254044004 Many Synonyms including Hereditary Deforming Chondrodysplasia Familial Exostoses Diaphyseal Aclasis
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

Resources

diaphyseal aclasis

Location: http://myweb.lsbu.ac.uk/dirt/museum/48--1542.html

Clinical presentation:
Routine chest in a 27 year old male with long standing abnormality.
There are multiple exostoses, which are associated with a modelling abnormality in the bones, particularly the proximal humeri. There is calcification over the proximal metaphysis of the right humerus and two projections from then upper part of the...
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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