hereditary multiple exostoses

(redirected from multiple exostosis)

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 ?
Only 1,3% to 4,1% of solitary osteochondromas arise in spine and occur in approximately 9% of patients who are affected by hereditary multiple exostosis [4,11].
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis.
Natalie, who lives with husband Nick in Wallasey, suffers from a genetic condition called hereditary multiple exostosis.
A sample of her DNA was sent off to doctors at the Free University Brussels, Belgium, where medics were able to isolate the mutation which caused hereditary multiple exostosis.
He is believed to be the first child to be born in the UK following PGD for hereditary multiple exostosis.
Diaphyseal aclasis, also termed Hereditary Multiple Exostosis (HME) or osteochondromatosis is characterised by multiple bony prominences that grow near joint lines throughout the skeleton.
Yet Ethan, seven, suffers from a rare hereditary condition called multiple exostosis which causes painful lumps to grow from his bones and joints - restricting his movements.
Hereditary multiple exostosis is a disorder in which an osseous projection capped by cartilage develops on the metaphyses of long bones [1]; the lesion is present in the femoral proximal metaphysis in 25% of patients [2].
Hereditary multiple exostosis is an autosomal dominant disorder in which an osseous projection capped by cartilage appears on the metaphyses of long bones [1].
Multiple osteochondromas are associated with syndromes like hereditary multiple exostosis.
Occurs as two variants solitary and multiple exostosis (hereditary).

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