Table of ContentsDefinition / general | Essential features | Terminology | Epidemiology | Sites | Radiology images | Case reports | Gross images | Additional references | Board review style question #1 | Board review style answer #1
Cite this page: Findeis-Hosey J, Gonzalez RS. Gardner syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorgardner.html. Accessed April 15th, 2021.
Definition / general
- A variant of familial adenomatous polyposis (FAP) with prominent extraintestinal manifestations
- Features of FAP and extraintestinal lesions, including desmoid tumors, bone osteomas and fibromas
- Due to a mutation in the APC tumor suppressor gene
- Rarely also called Plenk-Gardner syndrome
- Incidence of 1 per million in U.S.
- Colonic adenomatous polyps plus extraintestinal features, including multiple osteomas (skull, mandible and long bones), epidermal cysts, desmoid fibromatosis (10%, usually arise after intra-abdominal surgery, aggressive and may cause death), fibromas, lipomas, impacted and supernumerary teeth, dental cysts and congenital hypertrophy of retinal pigment epithelium
- 11 year old girl presenting with fibromatosis (World J Gastroenterol 2005;11:5408)
Board review style question #1
Gardner syndrome is caused by a germline mutation in what gene?