Bannayan–Riley–Ruvalcaba syndrome

Also known as: Bannayan–Zonana syndrome

PTEN hamartoma tumor syndrome of childhood.

Medical specialty: Genetics
Subspecialty: Genetics / Overgrowth syndromes
Sex & age distribution: Male: affected, male predominance; Female: affected; Children: yes, congenital
Gene(s) involved: PTEN

Etiology & mechanism

PTEN haploinsufficiency.

Gene(s) involved (1)

PTEN

Symptoms & signs (6)

developmental delayhemangiomasintestinal polypslipomasmacrocephalypigmented penile macules

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