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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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Inheritance

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How is Bannayan-Riley-Ruvalcaba syndrome inherited?

BRRS is inherited in an autosomal dominant pattern, which means an individual needs to only inherit one mutated copy of the PTEN gene in order to have the condition.[1] In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[2]
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.
  2. Bannayan-Riley-Ruvalcaba syndrome. Genetics Home Reference. September 2012; http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome. Accessed 3/18/2013.


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.