Conditions / Syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
info · Syndrome
A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in
A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.
Signs and symptoms
- Cerebral hemorrhage
- Juvenile gastrointestinal polyposis
- Seizure
- Juvenile colonic polyposis
- Cyanotic episode
- Cavernous hemangioma
- Pancytopenia
- Anemia
- Pulmonary arteriovenous malformation
- Telangiectasia
Also known as: JP-HHT