Gardner syndrome

Last revised by Craig Hacking on 29 May 2024

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

Other abnormalities include:

Pathology

There is an autosomal dominant inheritance in the tumor 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.

Cases and figures

  • Case 2: multiple osteomas and supernumerary teeth
  • Case 3
  • Case 4: after total colectomy
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