What is Bannayan-Ruvalcaba-Riley Syndrome (BRRS)?
BRRS is a rare hereditary condition that most often can cause polyps (hamartomas) of the small and large intestine, an increased head size (macrocephaly), benign fatty tumors (lipomas), blood vessel changes (hemangiomas), and thyroid problems. Males with BRRS often have some freckling on the penis.
The features of BRRS usually start showing up in childhood. Babies are typically born with a larger head, longer body, and a weight over 9 pounds (4kg). After birth their growth slows and as a result, children and adults are of normal height and size. Sometimes children will also have decreased muscle tone (hypotonia) and/or learning difficulties and developmental delay. Benign fatty tumors under the skin or in the abdomen and intestinal polyps (most commonly hamartomatous polyps) are common. Hemangiomas, or raised red birthmarks caused by blood vessel changes, may also be present. Hemangiomas can be either on internal organs or on the skin.
People diagnosed with BRRS do not necessarily have all the same features. Only 50 percent of children have developmental delays and learning problems, while the other 50 percent have normal development. About 45 to 80 percent of affected individuals will develop polyps on the intestine. Table 1 lists the features that have been associated with BRRS and the percentage of people that develop each feature (incidence). People with BRRS who have a mutation in the PTEN gene may also be at risk for the features associated with Cowden syndrome. Therefore, we have also included Table 2 with those features as well.
Source: Robert Pilarski, MS, CGC, MSW, LSW Ohio State University
Joy Larsen Haidle, MS, CGC, Humphrey Cancer Center
Heather Hampel, MS, CGC, Ohio State University
Last Reviewed: September 2010
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