Bannayan-Riley-Ruvalcaba Syndrome


Type of disease: Rare conditions

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the PTEN hamartoma tumor syndromes (PHTS), a spectrum of disorders caused by mutations in a gene called PTEN. BRRS is a disorder present from birth that is characterized by macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. The symptoms of BRRS vary from person to person. Treatment is based on the symptoms present; however, because of the increased risk of developing cancer in people with the PHTS, increased cancer surveillance is recommended. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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