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: 10/31/2017 11:49:59 AM
From the Newsdesk
Just a few weeks after Brianna was born, her mother noticed a red growth on her daughter’s upper lip. Her pediatrician referred the family to specialists who diagnosed the growth as an Infantile Hemangioma. On December 7th, Dr. Chad Perlyn of Nickalus Children's Hospital, removed the hemangioma.
The Vascular Birthmarks Foundation presented Dr. Ana Duarte with a 2016 Physician of the Year Award for outstanding service in the diagnosis and treatment of children affected by a vascular birthmark.