Other Names for this Disease
- Riley-Smith syndrome
- Macrocephaly multiple lipomas and hemangiomata
- Ruvalcaba -Myhre-Smith syndrome
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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.
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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.