Juvenile polyposis syndrome

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

General

It is characterized by (hamartomatous) juvenile polyps.

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

Note:

• SMAD4 is also associated with hereditary hemorrhagic telangiectasia syndrome.

Criteria for Dx of JPS

One of the following:

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

Note:

• "Multiple" is not defined.

See also

• Gastrointestinal polyps.
• Peutz-Jeghers syndrome.