Gardner syndrome

Also known as: Familial adenomatous polyposis with extracolonic features

Colonic polyposis with osteomas, epidermoid cysts and desmoid tumors.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, polyps from teens
Gene(s) involved: APC

Etiology & mechanism

APC tumor suppressor loss activating Wnt signaling.

Gene(s) involved (1)

APC

Symptoms & signs (6)

colonic polypscolorectal cancercongenital retinal pigment hypertrophydesmoid tumorsepidermoid cystsosteomas

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.