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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bannayan-Riley-Ruvalcaba syndrome


Other Names for this Disease
  • Bannayan-Zonana syndrome
  • BRRS
  • BZS
  • Macrocephaly multiple lipomas and hemangiomata
  • Macrocephaly pseudopapilledema and multiple hemangiomas
More Names
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Treatment


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How is Bannayan-Riley-Ruvalcaba syndrome treated and monitored?

Treatment is based on the specific signs and symptoms present in the individual. Screening recommendations for BRRS have not been established; however, recent studies have suggested that people with BRRS, especially those with a known mutation in their PTEN gene, should undergo increased surveillance of cancer affecting the breast, thyroid, endometrial, and kidney.[1]
Last updated: 3/18/2013

References
  1. Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. April 2012; http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed 3/18/2013.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.