Juvenile polyposis syndrome

Also known as: JPS

Multiple hamartomatous juvenile polyps of the gastrointestinal tract.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Polyposis syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, polyps in childhood
Gene(s) involved: BMPR1A, ENG, SMAD4

Etiology & mechanism

TGF-beta/BMP pathway loss.

Gene(s) involved (3)

BMPR1AENGSMAD4

Symptoms & signs (7)

abdominal painanemiacolorectal cancer riskdiarrheahereditary hemorrhagic telangiectasiaprolapsing polypsrectal bleeding

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.