{"id":27131,"date":"2024-05-26T13:32:19","date_gmt":"2024-05-26T11:32:19","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27131"},"modified":"2025-10-10T12:05:30","modified_gmt":"2025-10-10T10:05:30","slug":"multiple-cartilaginous-exostoses","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/multiple-cartilaginous-exostoses\/","title":{"rendered":"Multiple Cartilaginous Exostoses"},"content":{"rendered":"

Multiple Cartilaginous Exostoses \u2013\u00a0Definition<\/h2><\/div>
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Multiple cartilaginous exostosis syndrome (OMIM 133700, 133701, 600209) is a rare disease in which multiple cartilaginous exostoses or osteochondromas occur, mainly on the epiphyses of the long bones. There is a risk of malignant degeneration into chondrosarcoma.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

Hereditary multiple exostoses, multiple osteochondromatosis, osteochondromatosis<\/p>\n<\/div><\/div><\/div><\/div>

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Genes:<\/p>\n<\/div><\/div><\/div>

EXT1<\/em> (8q24.11) or EXT2<\/i> (11p11.2)<\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

Exostosin glycosyltransferase<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Heparan sulfate biosynthesis<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant, de novo<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

up to 1:50.000<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

–<\/p>\n<\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

96% for women and 100% for men<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>