Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome
Other namesBRRS
Autosomal dominant is the manner in which this condition is inherited
SpecialtyOncology, medical genetics 
SymptomsEnlarged head[1]
CausesMutations in the PTEN gene [2]
Diagnostic methodBased on signs and symptoms[3]
TreatmentBased on symptoms[3]

Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner.[4] The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes.[5]

  1. ^ Cite error: The named reference nor was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference muta was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference nih was invoked but never defined (see the help page).
  4. ^ "Bannayan-Riley-Ruvalcaba syndrome". Genetics Home Reference. Archived from the original on 20 December 2016. Retrieved 9 December 2016.
  5. ^ Cite error: The named reference pten was invoked but never defined (see the help page).
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