Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias.

Also known as: SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, JP/Hht syndrome, JPHT, jPS/Hht, juvenile polyposis with hereditary hemorrhagic telangiectasia, polyposis, generalised juvenile, with pulmonary arteriovenous malformation, polyposis, generalized juvenile, with pulmonary arteriovenous malformation

34 clinical trials for this condition and its sub-types, 0 tagged with Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome itself.