Bannayan-Ruvalcaba-Riley syndrome

Bannayan-Ruvalcaba-Riley syndrome

A rare autosomal dominant MIM 153480 syndrome characterised by subcutaneous lipomas, haemangiomas, macrocephaly, macrosomy, hypotonia, delayed gross motor and/or speech development, mental retardation, proximal muscle myopathy, and hereditary colorectal cancer. BRR syndrome is one of the hamartomatous polyposis syndromes, including Peutz-Jeghers disease, juvenile polyposis and Cowden syndrome. BRR is caused by a mutation in Phosphatase and tensin (PTEN), a gene on chromosome 10q23.3, which encodes PTEN homolog, a protein that acts as a tumour-suppressor.
References in periodicals archive ?
Polypoid or diffuse mucosal ganglioneuromatosis is associated with these syndromes as well as the PTEN hamartomatous polyposis syndromes Cowden disease and Bannayan-Ruvalcaba-Riley syndrome.