Peutz-Jeghers syndrome

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Peutz-Jeghers syndrome

Synonyms: Hamartomatous intestinal polyposis | PJS

A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Peutz-Jeghers syndrome?

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Advocacy Organizations


We are on a mission to cure Peutz-Jeghers Syndrome. We are working to provide safe and effective treatments on our journey to a cure.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


Educate and provide resources to POC with Rare Cancers

Clinical Trials

For a list of clinical trials in this disease area, please click here.