Gardner Syndrome

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Classification according to ICD-10
D12.6 Colon, unspecified
ICD-10 online (WHO version 2019)

The Gardner's syndrome , named after the American geneticist Eldon John Gardner (* 1909 in Utah , † 1989 ), is a rare genetic cancer syndrome , a mutation of the adenomatous polyposis coli protein is based. It occurs in around 1 in 10,000 newborns and is inherited as an autosomal dominant trait.

The syndrome is described as a phenotypic variant of familial adenomatous polyposis ( FAP ) (i.e., there is a smooth transition). In addition to the adenomas of the large intestine , benign tumors of the bones (e.g. osteomas ), the skin , subcutaneous tissue and connective tissue (e.g. atheromas , lipomas , fibromas , leiomyomas ) occur. Other features associated with Gardner syndrome are hyperdontia (excessive number of teeth), colon and stomach polyps, and epidermoid cysts .

therapy

Since Gardner syndrome, like familial adenomatous polyposis, is an obligatory precancerous condition (100% probability of developing colon cancer ), treatment is an early total colectomy .

literature