hereditary hemorrhagic telangiectasia
Definition: a disease with onset usually after puberty, marked by multiple small telangiectases and dilated venules that develop slowly on the skin and mucous membranes; the face, lips, tongue, nasopharynx, and intestinal mucosa are frequent sites, and recurrent bleeding may occur; autosomal dominant inheritance, caused by mutation in the gene (ENG) encoding endoglin on chromosome 9q.
Synonym(s): Rendu-Osler-Weber syndrome
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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.