PTEN Hamartoma Tumor Syndrome

What is PTEN hamartoma tumor syndrome?

PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder caused by a defect in a gene called PTEN. It is an umbrella term for a number of related syndromes, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome and Proteus-like syndrome.

Children with PHTS can have a wide range of problems, including benign tumor-like growths (hamartomas), increased cancer risk and neurodevelopmental disorders.

How we care for PTEN hamartoma tumor syndrome

The Boston Children’s Hospital Neurogenetics Program provides diagnosis and treatment for children with all forms of PHTS.

Our team of specialists has a deep knowledge of PHTS and can provide specialty care for the many conditions related to the condition, including autism, developmental delay, gastrointestinal issues, skin conditions and cancer.

In addition, the Translational Neuroscience Center (TNC) at Boston Children’s is at the forefront of research in rare neurological and genetic conditions, including PTEN hamartoma Tumor Syndrome.