[5] Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps).

Visceral as well as intracranial involvement may occur in some cases, and can cause bleeding and symptomatic mechanical compression[6][7] The genetics of the Bannayan–Riley–Ruvalcaba syndrome is determined, in the majority of cases, via the PTEN gene which presents about 30 mutations in this condition.

This gene which regulates cell growth, when not working properly can lead to hamartomas.

[9] Bannayan–Zonana syndrome is named for George A. Bannayan and Jonathan Zonana[10] In terms of diagnosing Bannayan–Riley–Ruvalcaba syndrome there is no current method outside the physical characteristics that may be present as signs/symptoms.

[11] The differential diagnosis for BRRS consists of the following:[12] In terms of management one should observe what signs or symptoms are present and therefore treat those as there is no other current guideline.