Juvenile polyposis hereditary hemorrhagic telangiectasia syndrome

Common Name(s)

Juvenile polyposis hereditary hemorrhagic telangiectasia syndrome

The JP/HHT syndrome phenotype refers of the coexistence of juvenile polyposis syndrome (JPS; {174900}) and hereditary hemorrhagic telangiectasia (HHT; {187300}) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by {7:Gallione et al., 2010)}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile polyposis hereditary hemorrhagic telangiectasia syndrome" for support, advocacy or research.

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Scientific Literature

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