Turcot syndrome

Also known as: Glioma-polyposis syndrome

Colorectal polyposis with central nervous system tumors.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Polyposis syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, brain tumors in adolescence
Gene(s) involved: APC, MLH1, MSH2, PMS2

Etiology & mechanism

APC or mismatch repair gene mutation.

Gene(s) involved (4)

APCMLH1MSH2PMS2

Symptoms & signs (6)

colonic polypscolorectal cancerglioblastomaheadachemedulloblastomarectal bleeding

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