MBD4-Associated Neoplasia Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A syndrome inherited in an autosomal recessive manner and caused by germline mutations in MBD4 gene. It is characterized by the presence of multiple colorectal adenomatous polyps and an increased risk of developing colorectal cancer, acute myeloid leukemia, and uveal melanoma.

**Synonyms:** - MANS