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 ?
The differential diagnosis of hereditary multiple exostoses includes the enchondromatosis, which are a heterogeneous group of syndromes that present with multiple enchondromas associated with pathological fractures, pseudarthrosis, limb shortening, malignant transformation risk, and scoliosis.
Although there is good literature review published regarding cases of hereditary multiple exostoses, however, only a few cases have been reported in Puerto Rico.
Health-related Quality of Life in People with Hereditary Multiple Exostoses.
Genotype-phenotype correlation in hereditary multiple exostoses.
Natural history study of hereditary multiple exostoses.
Clinical outcome and genotype in patients with hereditary multiple exostoses.
The achievement of the 12-year-old from Gateshead is all the more commendable as he suffers from a very rare bone condition called hereditary multiple exostoses.
His achievements are all the more remarkable as he suffers from a bone condition called Hereditary Multiple Exostoses (HME), which affects only around 1,000 people in Britain.
Now 42, the Walkergate mum-of-three has lived with the debilitating bone disorder Hereditary Multiple Exostoses since she was a baby.

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