(hereditary haemorrhagic telangiectasia) a hereditary (autosomal dominant) disorder characterized by thinning of the blood vessel walls, resulting in abnormally wide and fragile blood vessels. Patients may develop telangiectasia (see telangiectasis), nosebleeds, and arteriovenous malformations (see angioma). It is caused by mutations in the endoglin (ENG) gene or the activin receptor-like kinase (ALK-1) gene. Sir W. Osler (1849–1919), Canadian physician; H. J. M. Rendu (1844–1902), French physician; F. P. Weber (1863–1962), British physician
Subjects: Medicine and Health.