The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal pigmentation of the oral mucosa||90%|
|Abnormality of nail color||7.5%|
|Biliary tract neoplasm||7.5%|
|Nausea and vomiting||7.5%|
|Neoplasm of the breast||7.5%|
|Neoplasm of the colon||7.5%|
|Neoplasm of the lung||7.5%|
|Neoplasm of the pancreas||7.5%|
|Neoplasm of the rectum||7.5%|
|Neoplasm of the small intestine||7.5%|
|Neoplasm of the stomach||7.5%|
|Abnormality of the mouth||-|
|Abnormality of the ureter||-|
|Autosomal dominant inheritance||-|
|Biliary tract abnormality||-|
|Clubbing of fingers||-|
|Iron deficiency anemia||-|
|Precocious puberty with Sertoli cell tumor||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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I have many dark colored spots on my lips, inside my cheek, and on my gum. These spots developed while I was in my thirties. Although I do not have gastrointestinal symptoms and my family history is negative, my dermatologist has suggested the possibility of Peutz-Jeghers syndrome (PJS). I am concerned about the high incidence of cancer in PJS patients and would like to know if definitive testing is available. See answer