Other Names for this Disease
- Riley-Smith syndrome
- Macrocephaly multiple lipomas and hemangiomata
- Ruvalcaba -Myhre-Smith syndrome
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Tests & Diagnosis
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.
Last updated: 3/18/2013
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.