Peutz-Jeghers syndrome (PJS) is a disorder often passed down through families (inherited) in which the person develops intestinal polyps and is at a significantly higher risk for developing certain cancers.

It is unknown how many people are affected by PJS. However, the National Institutes of Health estimate that it affects about 1 in 25,000 to 300,000 births.

There are two types of PJS:

• Familial PJS is due to a mutation in a gene called STK11. The genetic defect is passed down (inherited) through families as an autosomal dominant trait. That means if one of your parents have this type of PJS, you have a 50-50 chance of inheriting the bad gene.
• Sporadic PJS is not passed down through families and appears unrelated to the STK11 gene mutation.

• Brownish or bluish-gray pigmented spots on the lips, gums, inner lining of the mouth, and skin
• Clubbed fingers or toes
• Cramping pain in the belly area
• Dark freckles on and around the lips of a newborn
• Blood in the stool that can be seen with the naked eye (occasionally)
• Vomiting

A colonoscopy or flexible sigmoidoscopy shows intestinal polyps. The polyps develop most commonly in the small intestine, but also in the colon. An x-ray of the abdomen may also show polyps.

Additional exams may show:

• Intussusception (part of the intestine folds in on itself)
• Noncancerous tumors in the ear (exostoses)

Laboratory tests may include:

• Complete blood count - may reveal anemia
• Genetic testing
• Stool guaiac
• Total iron-binding capacity (TIBC)