|
|
|
|
||||
Bannayan-Riley-Ruvalcaba syndrome
Background
Bannayan-Riley-Ruvalcaba syndrome: BRRS; Bannayan-Zonana syndrome; Macrocephaly, Multiple Lipomas and Haemangioma; Ruvalcaba-Myhre-Smith syndrome; Riley-Smith syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare, congenital (present at birth) disorder. It is one of a group of syndromes called PTEN Hamartoma Tumour syndromes that also include Cowden disease and Proteus syndrome, which are associated with mutations (changes) in the PTEN gene. A number of doctors described individuals with varying symptoms that include excessive growth before and after birth, macrocephaly (large head), normal intellect or learning difficulties and hamartomas (benign tumour-like growths). This has lead to a number of differing names being given to the syndrome. It is most often called Bannayan-Riley-Ruvalcaba syndrome. The syndrome affects both males and females. It is thought that incidence of BRRS is under diagnosed due to the variable and subtle external signs of the syndrome and it is not possible to give a true picture of the likely numbers of individuals with the syndrome.
The hamartomas that are a hallmark of the syndrome are benign. Individuals with Cowden disease, which is also caused by mutations in the PTEN gene are more prone to develop other tumours and are at risk of malignancy. The risks of malignancy for individuals affected with BRRS are less clear. It has been suggested that the same regular surveillance used to screen for tumours in people with Cowden disease should be used in BRRS.
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 
