hereditary multiple exostoses


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he·red·i·tar·y mul·ti·ple ex·os·to·ses

[MIM*133700]
a disturbance of endochondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the skull is not involved; the ill effects are usually mechanical but malignant change is rare; autosomal dominant inheritance with genetic heterogeneity. Type I is caused by a mutation in the exostosis-1 gene (EXT1) on 8q, type II is due to mutation in the exostosis-2 gene (EXT2) and type III maps to 19p.

hereditary multiple exostoses

a rare familial dyschondroplastic disease in which bony protuberances form on the shafts of the long bones and eventually develop into caps of cartilage covering the ends of the bones. The affected joints lose their mobility, and the bones stop growing. The disease begins in childhood and has no cure. Very rarely a chondrosarcoma may develop from the cap of an exostosis. See also Ollier's dyschondroplasia.

he·red·i·tar·y mul·ti·ple ex·os·to·ses

(hĕr-edi-tar-ē mŭlti-pĕl eksos-tōsēz)
Disturbance of endochondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the skull is not involved; the ill effects are usually mechanical but malignant change is rare.

he·red·i·tar·y mul·ti·ple ex·os·to·ses

(hĕr-edi-tar-ē mŭlti-pĕl eksos-tōsēz) [MIM*133700]
Disturbance of endochondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula. Cranium is not involved.
References in periodicals archive ?
For a review on hereditary multiple exostoses, please see the article by Wicklund et al.
Each of her six children has Hereditary Multiple Exostoses (HME), an incurable bone disease which can cause severe pain and crippling disfigurement.
The teenager is one of only a few hundred people in the country who has been diagnosed with Hereditary Multiple Exostoses, a painful bone condition.

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