Colon
Syndromes
Gardner syndrome
Last author update: 24 February 2021
Last staff update: 3 December 2021
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PubMed Search: Gardner syndrome [title] colon tumor
Table of Contents
Definition / general | Essential features | Terminology | Epidemiology | Sites | Radiology images | Case reports | Gross images | Additional references | Board review style question #1 | Board review style answer #1Cite this page: Findeis-Hosey J, Gonzalez RS. Gardner syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorgardner.html. Accessed November 27th, 2024.
Definition / general
- A variant of familial adenomatous polyposis (FAP) with prominent extraintestinal manifestations
Essential features
- Features of FAP and extraintestinal lesions, including desmoid tumors, bone osteomas and fibromas
- Due to a mutation in the APC tumor suppressor gene
Terminology
- Rarely also called Plenk-Gardner syndrome
Epidemiology
- Incidence of 1 per million in U.S.
Sites
- 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
Radiology images
Images hosted on other servers:
Abdominal CT showing
desmoid fibromatosis
in Gardner syndrome
patient
Case reports
- 11 year old girl presenting with fibromatosis (World J Gastroenterol 2005;11:5408)
Gross images
Images hosted on other servers:
Innumerable colon polyps from Gardner patient
Desmoid fibromatosis
Additional references
Board review style question #1
Gardner syndrome is caused by a germline mutation in what gene?
- APC
- BRAF
- MLH1
- STK11
Board review style answer #1
