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Disease Profile

Peutz-Jeghers syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Polyposis, hamartomatous intestinal; PJS; Polyps-and-spots syndrome;


Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;


Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner.[1][2] Management typically includes high-risk screening for associated polyps and cancers.[3]


Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life.[1][2]

People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors.[1][2] Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource.

Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older.[1][2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormal pigmentation of the oral mucosa
Gastrointestinal carcinoma
Multiple lentigines
30%-79% of people have these symptoms
Gastrointestinal hemorrhage
Gastrointestinal bleeding
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

Abnormality of the gallbladder
Abnormality of the ureter
Low number of red blood cells or hemoglobin
Biliary tract neoplasm
Breast carcinoma
Breast cancer
Cervix cancer
Enlarged polycystic ovaries
Enlarged ovaries with cysts
Esophageal neoplasm
Esophageal tumor
Gastrointestinal infarctions
Death of digestive organ tissue due to poor blood supply
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

Multiple renal cysts
Multiple kidney cysts
Nasal polyposis
Neoplasm of the colon
Colon tumor
Neoplasm of the lung
Lung tumor
Neoplasm of the nose
Nasal tumor
Nose cancer
Tumor of the nose

[ more ]

Neoplasm of the rectum
Rectal tumor
Neoplasm of the small intestine
Small intestine tumor
Pancreatic adenocarcinoma
Rectal prolapse
Rectum protrudes through anus
Renal cell carcinoma
Cancer starting in small tubes in kidneys
Stomach cancer
Throwing up
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Biliary tract abnormality
Bladder polyp
Clubbing of fingers and toes
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

Enlarged male breast
Hamartomatous polyposis
Hypermelanotic macule
Hyperpigmented spots
Intestinal bleeding
Iron deficiency anemia
Labial melanotic macule
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

Oral melanotic macule
Ovarian cyst
Precocious puberty with Sertoli cell tumor
Uterine neoplasm
Uterine tumor


Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS.[4]

Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.[4]


A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS.[1]

GeneReviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Social Networking Websites

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Peutz-Jeghers syndrome. This website is maintained by the National Library of Medicine.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Peutz-Jeghers syndrome. Click on the link to view a sample search on this topic.


            1. Thomas J McGarrity, MD, Christopher I Amos, PhD, Marsha L Frazier, PhD, and Chongjuan Wei, PhD. Peutz-Jeghers Syndrome. GeneReviews. July 2013; https://www.ncbi.nlm.nih.gov/books/NBK1266/.
            2. Thomas M Attard, MD, FAAP, FACG. Peutz-Jeghers Syndrome. Medscape Reference. December 2014; https://emedicine.medscape.com/article/182006-overview.
            3. Dawn Provenzale, MD, MS. Genetic/Familial High-Risk Assessment: Colorectal. National Comprehensive Cancer Network. February 2014; Accessed 3/15/2015.
            4. Peutz-Jeghers syndrome. Genetics Home Reference. February 2013; https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome.

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