Peutz-Jeghers Syndrome

Also known as: PJS.

What is Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome is a genetic disorder that causes affected individuals to develop polyps in their intestines. Polyps are small growths of tissue that are typically non-cancerous, but they can increase the risk of cancer developing over time. Other symptoms can also occur with Peutz-Jeghers syndrome.

What causes Peutz-Jeghers syndrome?

In many cases, Peutz-Jeghers syndrome is due to a genetic mutation that is passed along from parents to their children. Other times, the disease occurs sporadically for unknown reasons.


What are the symptoms of Peutz-Jeghers syndrome?

In some cases, the polyps can lead to abdominal pain, cramping, vomiting and bloody stools. Symptoms such as clubbed fingers or toes and freckles or spots on the faces of infants can also occur with Peutz-Jeghers syndrome.

What are Peutz-Jeghers syndrome care options?

Individuals with Peutz-Jeghers syndrome are often under observation due to the cancer risk associated with the condition. The polyps can be removed surgically if they become problematic.

Regular follow up with a pediatric gastroenterologist is essential to screen for early polyps with various technologies including endoscopy.

Reviewed by: Ziad A Khatib, MD

This page was last updated on: January 11, 2022 12:09 PM