Bannayan-Riley-Ruvalcaba syndrome

MONDO:0007924

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

Also known as: BRRS, Bannayan syndrome, Bannayan-Riley-Ruvalcaba syndrome, Bannayan-Zonana syndrome, Myhre-Riley-Smith syndrome, RILEY-SMITH syndrome, Ruvalcaba-MYHRE-SMITH syndrome, macrocephaly with multiple lipomas and hemangiomas

35 clinical trials for this condition and its sub-types, 1 tagged with Bannayan-Riley-Ruvalcaba syndrome itself.

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Where it sits in the disease tree

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↑ Vascular disorder (10728) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Intestinal polyposis syndrome (53) ↑ Overgrowth syndrome (49) ↑ PTEN hamartoma tumor syndrome (8)

Including sub-types (35) Tagged with Bannayan-Riley-Ruvalcaba syndrome (1)

Not yet recruiting 1

Could a cancer drug boost social abilities in rare genetic condition?

Disease control Not yet recruiting

This study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

Phase 2/3 • Sponsor: Boston Children's Hospital • Aim: Disease control

Last updated Jun 27, 2026 13:03 UTC

Bannayan-Riley-Ruvalcaba syndrome

Where it sits in the disease tree

Could a cancer drug boost social abilities in rare genetic condition?