Also known as: BRRS
What is Bannayan-Riley-Ruvalcaba Syndrome?
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare condition with hamartomatous polyps of the small and large intestines. It is associated with:
- macrocephaly (larger head size)
- lipomas (benign fatty tumors)
- blood vessel changes (hemangiomas)
- thyroid problems
Some children may be hypotonic (decreased muscle tone), have learning difficulties, and developmental delays. Also, the hemangiomas (raised red birthmarks) associated with this condition may be present on internal organs and the skin.
Not all patients diagnosed with BRRS have the same features. Only 50% have developmental and learning delays and only 45% develop intestinal polyps.
In addition, patients may display eye abnormalities such as strabismus (crossed eye), widely spaced eyes, and exotropia (deviation of one eye away from the other). Also, skin abnormalities may include areas of “marbled” pigmentation (cutis marmorata) and freckle-like spots on the genital region of both male and female patients.
Close follow-up with specialists specific to associated symptoms is a vital part of managing this condition.
This page was last updated on: December 18, 2020 05:00 PM