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What is diaphyseal aclasis?
Also known as hereditary multiple osteochondromas, diaphyseal aclasis is a rare (1:50.000) gene mutation on the long arm of chromosome 8 (EXT1) or the short arm of chromosome 11 (EXT2), that is inherited in an autosomal-dominant pattern. Patients exhibit growth disturbances and develop multiple osteochondromas, usually by the age of 12. There is an increased risk of malignant degeneration compared with solitary osteochondromas.
Distribution of osteochondromas. Layout and distribution: Frank Gaillard 2012, Line drawing of the skeleton: Patrick Lynch 2006, Creative Common NC-SA-BY