Gardner Syndrome

📋Overview

Gardner syndrome is a hereditary disorder recognized as a variant of familial adenomatous polyposis, often referred to clinically as familial adenomatous polyposis with extracolonic features. It involves the formation of many adenomatous polyps in the colon and rectum, alongside manifestations such as benign bone tumors and soft tissue abnormalities.

The condition is caused by mutations in the APC gene, which regulates cell growth and division. While the primary feature is intestinal polyposis, the presence of specific findings like osteomas or skin cysts helps distinguish this variant within the spectrum of genetic polyposis syndromes.