Gardner syndrome

Last revised by Craig Hacking on 29 May 2024

Gardner syndrome is one of the polyposis syndromes. It is characterised by:

Other abnormalities include:

Pathology

There is an autosomal dominant inheritance in the tumour suppressor adenomatous polyposis coli (APC) gene (chromosome 5q) in a majority of patients but with 20% of cases resulting from new mutations. Extracolonic features often precede the diagnosis of colonic polyps. 

History and etymology

First described in 1953 by Gardner and Richards 3.

ADVERTISEMENT: Supporters see fewer/no ads