Living with Bannayan-Riley-Ruvalcaba syndrome
A genetic condition with a large head size, non-cancerous growths, and dark freckles on the penis in males.
Understanding Bannayan-Riley-Ruvalcaba syndrome
Signs are present from birth or show in early childhood. At least half of babies have a large head, and many have high birth weight. Growth slows during childhood, so adults are of normal height. About half of children have intellectual disability or delayed development, which may improve with age. About half develop intestinal polyps. Cancer risks are still being studied.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head size (macrocephaly)
- Non-cancerous polyps in the intestines
- Fatty lumps under the skin (lipomas)
- Strawberry birthmark or blood vessel growths
- Scoliosis and short stature
- Dark freckles on the penis (from summary)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PTEN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with PTEN Hamartoma Tumor Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the PTEN gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: bannayan syndrome; bannayan-zonana syndrome; brrs; macrocephaly with multiple lipomas and hemangiomas; myhre-riley-smith syndrome; riley smith syndrome
Patient organizations
- PTEN Hamartoma Tumor Syndrome FoundationBannayan-Riley-Ruvalcaba syndrome · United States
- American Cancer SocietyBannayan-Riley-Ruvalcaba syndrome · United States
- CancerCareBannayan-Riley-Ruvalcaba syndrome · United States
- Susan G. KomenBannayan-Riley-Ruvalcaba syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Bannayan-Riley-Ruvalcaba syndrome.
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