Bannayan-Riley-Ruvalcaba syndrome
Findings
No curated finding names Bannayan-Riley-Ruvalcaba syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
Definition from the Mondo Disease Ontology (MONDO:0007924), read 2026-09-29. CC BY 4.0.
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal large intestine morphologyHPOHP:0002250
- Very frequent (80% to 99% of cases)
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Capillary hemangiomaHPOHP:0005306
- Very frequent (80% to 99% of cases)
- Hamartomatous polyposisHPOHP:0004390
- Very frequent (80% to 99% of cases)
- Intestinal polyposisHPOHP:0200008
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- LipomaHPOHP:0012032
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Neoplasm of the breastHPOHP:0100013
- Very frequent (80% to 99% of cases)
- NevusHPOHP:0003764
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Visceral angiomatosisHPOHP:0100761
- Very frequent (80% to 99% of cases)
Show the remaining 43
- Pectus excavatumHPOHP:0000767
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Subcutaneous hemorrhageHPOHP:0001933
- Frequent (30% to 79% of cases)
- Subcutaneous noduleHPOHP:0001482
- Frequent (30% to 79% of cases)
- Abdominal wall muscle weaknessHPOHP:0009023
- Occasional (5% to 29% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTENHGNC:9588
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: Bannayan-Riley-Ruvalcaba syndrome
- Also called
- Bannayan syndromeBannayan-Zonana syndromeBRRSmacrocephaly with multiple lipomas and hemangiomasMyhre-Riley-Smith syndromeRILEY-SMITH syndromeRuvalcaba-MYHRE-SMITH syndrome