Other Names for this Disease
- Riley-Smith syndrome
- Macrocephaly multiple lipomas and hemangiomata
- Ruvalcaba -Myhre-Smith syndrome
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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.