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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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Overview
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]
References
- Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed March 18, 2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Bannayan-Riley-Ruvalcaba syndrome have been answered. See questions and answers. You can also submit a new question.
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General Information
- Genetics Home Reference (GHR) contains information on Bannayan-Riley-Ruvalcaba syndrome. Click on the link to go to GHR and review the information.
- Genetics Home Reference (GHR) has an information on PTEN, the gene that has been associated with this condition. Click on the link to view the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bannayan-Riley-Ruvalcaba syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Bannayan-Riley-Ruvalcaba syndrome. Click on the link to go to OMIM and review these resources.