Juvenile polyposis syndrome

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Juvenile polyposis syndrome, abbreviated JPS, is an autosomal dominant inherited condition due to a mutation in SMAD4[1] or BMPR1A.[2]


It is characterized by (hamartomatous) juvenile polyps.

Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get colorectal carcinoma.[3]


Criteria for Dx of JPS

One of the following:[3]

  1. Five juvenile polyps in the colorectum.
  2. "Multiple" juvenile polyps through-out GI tract.
  3. Juvenile polyp + family history of JPS.


  • "Multiple" is not defined.

See also


  1. 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 600993
  2. Online 'Mendelian Inheritance in Man' (OMIM) 601299
  3. 3.0 3.1 Pagon, RA.; Bird, TD.; Dolan, CR.; Stephens, K.; Larsen Haidle, J.; Howe, JR.. "Juvenile Polyposis Syndrome". . PMID 20301642.