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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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Your Question

Could you please provide information about Bannayan-Riley-Ruvalcaba syndrome?

Our Answer

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What is Bannayan-Riley-Ruvalcaba syndrome?

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the PTEN hamartoma tumor syndromes (PHTS), a spectrum of disorders caused by mutations in a gene called PTEN. BRRS is a disorder present from birth that is characterized by macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. The symptoms of BRRS vary from person to person. Treatment is based on the symptoms present; however, because of the increased risk of developing cancer in people with the PHTS, increased cancer surveillance is recommended.[1]
Last updated: 3/18/2013

What are the signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome?

The characteristic features of BRRS are macrocephaly (larger than normal sized head), intestinal polyposis (multiple benign polyps in the intestines), lipomas (tumors below the skin made up of fatty tissue), and pigmented skin lesion (macule) in the area of the penis called the glans penis. Other common features of BRRS include high birth weight, developmental delay, mental deficiency, myopathy (problems with the tone and contraction of skeletal muscles [muscles that control voluntary movements]) of the proximal muscles (click here to view diagram of the location of proximal muscles), joint hyperextensibility (unusually large range of joint movement), pectus excavatum (sunken chest), and scoliosis.[1]
Last updated: 3/18/2013

What causes Bannayan-Riley-Ruvalcaba syndrome?

BRRS is caused by specific mutations in the PTEN gene. The PTEN gene provides instructions for making a protein that is found in almost all tissues in the human body. The protein acts as a tumor suppressor, which means that it plays a role in preventing cells from growing and dividing too rapidly or in an uncontrolled way.[2]
Last updated: 3/18/2013

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.[3]
Last updated: 3/18/2013

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.[1]
Last updated: 3/18/2013

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

How might I find a laboratory offering genetic testing for the PTEN gene? lists the names of both clinical and research laboratories offering genetic testing for the PTEN gene. (To learn more about the difference between research and clinical genetic testing, click here.)  Visit the links below to locate the names of laboratories conducting genetic testing.

Clinical laboratories
Research laboratories

Last updated: 7/21/2009

How can I locate additional information, including research, clinical trials, and supportive resources for Bannayan-Riley-Ruvalcaba syndrome?

To find further information about BRRS, click here to view the GARD resource Web page on BRRS.
Last updated: 3/18/2013