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Condition report · Cancer

Juvenile Polyposis Syndrome

An inherited condition caused by variants in BMPR1A or SMAD4 that leads to multiple juvenile polyps in the stomach and bowel and a raised risk of bowel and stomach cancer. SMAD4 carriers can also have hereditary haemorrhagic telangiectasia.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Juvenile polyposis syndrome

Autosomal dominant

Multiple hamartomatous (juvenile) polyps of the gastrointestinal tract with an increased risk of colorectal and gastric cancer.

What a diagnosis changes

Regular colonoscopy and upper endoscopy, usually from the early teens, with polyp removal; relatives can be offered testing.

Genes analysed

Also known as

JIP; JPS; juvenile gastrointestinal polyposis; juvenile intestinal polyposis; juvenile multiple polyps syndrome; juvenile polyposis; PJI; polyposis familial of entire gastrointestinal tract

Includes 3 related subtypes ↓
  • BMPR1A-related juvenile polyposis syndrome
  • generalized juvenile polyposis/juvenile polyposis coli
  • juvenile polyposis of infancy
MONDO:0017380OMIM 174900Orphanet 2929MedGen 87518

Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome

Autosomal dominant

SMAD4-related juvenile polyposis combined with features of hereditary haemorrhagic telangiectasia, such as nosebleeds and abnormal blood vessels in the lungs, brain or liver.

What a diagnosis changes

In addition to bowel surveillance, screening for arteriovenous malformations in the lungs and brain is recommended.

Genes analysed

Also known as

JPHT; polyposis, generalised juvenile, with pulmonary arteriovenous malformation; SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome

MONDO:0008278OMIM 175050MedGen 331400

Limitations

  • Large deletions of BMPR1A or SMAD4, including deletions that also remove the neighbouring PTEN gene, cause a meaningful share of cases; they need copy-number analysis and may not be detected.

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