Gardner syndrome is one of the polyposis syndromes. It is characterised by:
- familial adenopolyposis (FAP)
- multiple osteomas especially of the mandible, skull and long bones
- epidermal cysts
- desmoid tumours of abdominal wall
Other abnormalities include:
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.
- 1. Robbins SL, Kumar V, Abbas AK et-al. Robbins and Cotran pathologic basis of disease. W.B. Saunders Company. (2010) ISBN:1416031219. Read it at Google Books - Find it at Amazon
- 2. Hirokawa M, Manabe T, Hino K. Ampullary carcinoma in Gardner's syndrome: case report. Jpn. J. Clin. Oncol. 1988;18 (1): 43-50. Jpn. J. Clin. Oncol. (link) - Pubmed citation
- 3. Newman CA, Reuther WL, Wakabayashi MN et-al. Gastrointestinal case of the day. Gardner syndrome. Radiographics. 19 (2): 546-8. Radiographics (full text) - Pubmed citation
Synonyms & Alternative Spellings
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