Bannayan-Riley-Ruvalcaba syndrome


What is Bannayan-Riley-Ruvalcaba syndrome?

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome.

Infants born with BRRS tend to have a large head and body size, but their excessive growth slows down as the child gets older. By the time they reach adulthood, they will have normal height and weight. A male with BRRS can also get dark freckles on his penis. People with BRRS can develop lipomas (benign fatty tumors) and hemangiomas- a mesh of abnormal blood vessels that make the skin red or purple. Benign hamartomatous polyps are common colon findings, with numbers ranging from a couple of polyps to hundreds. Adenomatous polyps are also common and these can become cancerous. Individuals with BBRS are also known to be at increased risk for certain cancers like breast cancer, thyroid cancer, endometrial cancer, colon cancer, kidney cancer, and melanoma.

Other symptoms include muscle abnormalities such as hypotonia (weak muscle tone), possible intellectual and developmental delays, thyroid problems, hyper-extensibility, and scoliosis.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2020-01-13


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