Bannayan-Riley-Ruvalcaba syndrome
ORPHA: 109
Overview
a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Bannayan-Riley-Ruvalcaba syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityMacrocephalyAbnormal large intestine morphologyNevusShort statureHamartomatous polyposisCapillary hemangiomaIrregular hyperpigmentationLipomaNeoplasm of the breastArteriovenous malformationVisceral angiomatosisIntestinal polyposisPectus excavatumSubcutaneous noduleSubcutaneous hemorrhageScoliosisTall statureNarrow palateDolichocephalyLong philtrumMicrognathiaMacrotiaWide noseAnteverted naresAbnormal optic nerve morphologyHashimoto thyroiditisCutis marmorataLymphedemaTelangiectasiaIntellectual disabilitySeizureHypotoniaMuscle weaknessAngina pectorisHypoglycemiaFrontal bossingAbnormal speech patternIntracranial hemorrhageDelayed gross motor developmentNeoplasmLymphomaDelayed skeletal maturationMeningiomaThyroid carcinomaShort noseMyopathySkeletal muscle atrophyCachexiaAortic aneurysmMultiple cafe-au-lait spotsAbdominal wall muscle weaknessUterine neoplasmBroad thumbNeoplasm of the adrenal cortex
Classification & Codes
Orphanet Code
ORPHA:109Bannayan-Riley-Ruvalcaba syndrome
| Orphanet | ORPHA:109 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO