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Gardner syndrome

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

Other abnormalities include:

Pathology

There is an autosomal dominant inheritance in the FAP gene (Chromosome 5q) in a majority of patients but with 20% of cases resulting from new mutations. Extra colonic features often precede the diagnosis of colonic polyps. 

History and etymology

First described in 1953 by Gardner and Richards 3.

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