AXIN2-Associated Polyposis

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant syndrome caused by constitutional (germline) loss-of-function variants in AXIN2 gene. It is characterized by the presence of multiple colorectal adenomatous polyps and an increased risk of colorectal carcinoma. Oligodontia and ectodermal dysplasia may or may not be present.

**Synonyms:** - ODCRCS - Oligodontia-Colorectal Cancer Syndrome