Gardner syndrome

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

• familial adenopolyposis
• multiple osteomas: especially of the mandible, skull, and long bones
• epidermal cysts
• fibromatoses
• desmoid tumors of mesentery and anterior abdominal wall

Other abnormalities include:

• supernumerary teeth and odontomas 
• duodenal tumors / ampullary carcinoma
• papillary thyroid carcinoma

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. Extracolonic features often precede the diagnosis of colonic polyps.

History and etymology

First described in 1953 by Gardner and Richards .