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Other Names for this Disease
- Bannayan-Zonana syndrome
- Macrocephaly multiple lipomas and hemangiomata
- Macrocephaly pseudopapilledema and multiple hemangiomas
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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.Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the PTEN hamartoma tumor syndromes (PHTS), a spectrum of disorders caused by
Last updated: 3/18/2013
- Eng C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews. April 2012; http://www.ncbi.nlm.nih.gov/books/NBK1488/. Accessed 3/18/2013.
- Genetics Home Reference (GHR) contains information on Bannayan-Riley-Ruvalcaba syndrome. This website is maintained by the National Library of Medicine.
- 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.
- 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.
In Depth Information
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.