Bannayan-Riley-Ruvalcaba syndrome

Also known as: Bannayan-Zonana syndrome; Macrocephaly Multiple Lipomas and Haemangioma; Riley-Smith syndrome; Ruvalcaba-Myhre-Smith syndrome

Overview

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare, genetic condition. It is one of a group of syndromes called PTEN hamartoma tumour syndromes and is associated with mutations (changes) in the PTEN gene. Symptoms include excessive growth before and after birth, macrocephaly (large head), hamartomas (benign tumour-like growths) and in some children there may be learning difficulty. Diagnosis of BRRS is made on identification of the main features and 60 per cent of individuals also have a mutation of the PTEN gene.

Management of the condition helps reduce symptoms and improves quality of life. This will include annual checks of affected children and adolescents for the presence of cancers, particularly of the thyroid. As this is a genetic condition, affected families should be referred to a genetic centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Adam Shaw, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Bannayan-Riley-Ruvalcaba syndrome in the UK. Families can use Contact’s freephone helpline for advice and information. You can also meet other families online in our closed Facebook group