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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
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Tests & Diagnosis

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How is Bannayan-Riley-Ruvalcaba syndrome diagnosed?

Diagnostic criteria have not been established for BRRS; however, BRRS may be suspected based on the presence of signs and symptoms. Although genetic testing is available for the PTEN gene, it is  estimated that only about 65 percent of individuals with a clinical diagnosis of BRRS have a detectable PTEN gene mutation.[1434]
Last updated: 3/18/2013


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Bannayan-Zonana syndrome
  • BRRS
  • BZS
  • Macrocephaly multiple lipomas and hemangiomata
  • Macrocephaly pseudopapilledema and multiple hemangiomas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.