GTR Home > Conditions/Phenotypes > Juvenile polyposis syndrome

Disease characteristics

Excerpted from the GeneReview: Juvenile Polyposis Syndrome
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than a hundred. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers in families with JPS ranges from 9% to 50%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) (termed JPS/HHT) is present in most individuals with an SMAD4 pathogenic variant.

Associated genes

Clinical features

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  • Hypokalemia
  • Anemia
  • Hypoalbuminemia
  • Diarrhea
  • Failure to thrive
  • Clubbing
  • Abdominal pain
  • Rectal prolapse
  • Hematochezia
  • Intussusception
  • Colon cancer
  • Multiple gastric polyps
  • Duodenal carcinoma
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