Overview
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (abnormally large head), hamartomatous intestinal polyposis, lipomas, and pigmented macules (dark freckling) of the glans penis in males. It is part of the PTEN hamartoma tumor syndrome (PHTS) spectrum, which also includes Cowden syndrome, as both conditions are caused by mutations in the PTEN tumor suppressor gene on chromosome 10q23.3. BRRS was previously described under separate names — Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre-Smith syndrome — before being unified as a single entity. The condition affects multiple body systems. Neurological features may include macrocephaly present at birth, developmental delay, intellectual disability (variable severity), and hypotonia. Gastrointestinal involvement includes hamartomatous polyps throughout the intestinal tract. Patients frequently develop lipomas and vascular malformations (such as hemangiomas and arteriovenous malformations). Musculoskeletal features can include high birth weight, proximal myopathy, joint hyperextensibility, and pectus excavatum. The characteristic speckled pigmentation of the penile glans is a hallmark finding in affected males and can be an important diagnostic clue. Thyroid abnormalities, including Hashimoto thyroiditis and multinodular goiter, may also occur. Because BRRS falls within the PHTS spectrum, affected individuals may carry an increased lifetime risk of certain cancers, including breast, thyroid, endometrial, renal, and colorectal cancers, similar to Cowden syndrome. There is no cure for BRRS; management is supportive and involves surveillance for associated tumors and cancers. This includes regular thyroid examinations, dermatologic evaluations, colonoscopies, and age-appropriate cancer screening protocols as recommended for PTEN mutation carriers. Genetic counseling is strongly recommended for affected families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsBoston Children's Hospital — PHASE2, PHASE3
Institut Bergonié
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Bannayan-Riley-Ruvalcaba syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Bannayan-Riley-Ruvalcaba syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Bannayan-Riley-Ruvalcaba syndrome.
Community
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Start the conversation →Latest news about Bannayan-Riley-Ruvalcaba syndrome
Disease timeline:
New recruiting trial: Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene
A new clinical trial is recruiting patients for Bannayan-Riley-Ruvalcaba syndrome
New recruiting trial: Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
A new clinical trial is recruiting patients for Bannayan-Riley-Ruvalcaba syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Bannayan-Riley-Ruvalcaba syndrome
What is Bannayan-Riley-Ruvalcaba syndrome?
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (abnormally large head), hamartomatous intestinal polyposis, lipomas, and pigmented macules (dark freckling) of the glans penis in males. It is part of the PTEN hamartoma tumor syndrome (PHTS) spectrum, which also includes Cowden syndrome, as both conditions are caused by mutations in the PTEN tumor suppressor gene on chromosome 10q23.3. BRRS was previously described under separate names — Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre-Smith syndrome — before being unified as
How is Bannayan-Riley-Ruvalcaba syndrome inherited?
Bannayan-Riley-Ruvalcaba syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Bannayan-Riley-Ruvalcaba syndrome typically begin?
Typical onset of Bannayan-Riley-Ruvalcaba syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Bannayan-Riley-Ruvalcaba syndrome?
22 specialists and care centers treating Bannayan-Riley-Ruvalcaba syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.