Juvenile polyposis syndrome

Dr Henry Knipe et al.

Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps.

Presentation in the second decade is most common 2.

Rectal bleeding, bowel obstruction and intussusception are common presentations.

Juvenile polyposis syndrome is characterised by the presence of hundreds of hamartomatous polyps containing fluid/mucous.

Both the tumour suppressor gene SMAD4 on chromosome 10q (50% of cases) and BMPR1A gene have been implicated. The genetic basis is not always known 1.

Other congenital abnormalities are present in 20% of patients 1,2:

These hamartomatous polyps may degenerate into adenomas and subsequently ~40% will develop colorectal carcinoma 1.

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Article information

rID: 32803
Section: Syndromes
Synonyms or Alternate Spellings:
  • Familial juvenile polyposis
  • Juvenile polyposis coli

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