What is Ruvalcaba Syndrome

Ruvalcaba Syndrome, also known as Bannayan-Ruvalcaba-Riley Syndrome (BRRS), is a rare genetic disorder that primarily affects multiple systems in the body. It is characterized by the presence of certain physical features and an increased risk of developing certain types of tumors.

Physical features: Individuals with Ruvalcaba Syndrome may exhibit macrocephaly (an abnormally large head), multiple noncancerous growths called hamartomas on the skin and mucous membranes, as well as lipomas (benign fatty tumors).

Tumor predisposition: People with Ruvalcaba Syndrome have an increased risk of developing certain types of tumors, including benign tumors in the gastrointestinal tract, kidneys, and reproductive organs. Additionally, there is an elevated risk of developing certain cancers, such as breast and thyroid cancer.

Other associated features: Some individuals with Ruvalcaba Syndrome may experience developmental delays, intellectual disability, and learning difficulties. They may also have vascular malformations, scoliosis (abnormal curvature of the spine), and other skeletal abnormalities.

Ruvalcaba Syndrome is caused by mutations in the PTEN gene, which plays a role in regulating cell growth and division. It is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.