Rendu-Osler-Weber syndrome


he·red·i·tar·y hem·or·rhag·ic tel·an·gi·ec·ta·si·a

[MIM*187300] 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

Osler,

Sir William, Canadian physician in U.S. and England, 1849-1919. Osler disease - a chronic form of polycythemia. Synonym(s): polycythemia veraOsler node - a tender cutaneous lesion characteristic of subacute bacterial endocarditis.Osler sign - in acute bacterial endocarditis, circumscribed painful erythematous swelling in the skin and subcutaneous tissues of the hands and feet.Osler II syndrome - recurrent episodes of colic pain. Synonym(s): ball-valve gallstoneOsler triadRendu-Osler-Weber syndrome - see under Rendu

Rendu,

Henri Jules Louis Marie, French physician, 1844-1902. Rendu-Osler-Weber syndrome - a disease marked by multiple small telangiectases and dilated venules that develop slowly on the skin and mucous membranes. Synonym(s): hereditary hemorrhagic telangiectasia

Weber,

Frederick Parkes, English physician, 1863-1962. Klippel-Trenaunay-Weber syndrome - see under KlippelRendu-Osler-Weber syndrome - see under RenduSturge-Kalischer-Weber syndrome - Synonym(s): Sturge-Weber syndromeSturge-Weber disease - Synonym(s): Sturge-Weber syndromeSturge-Weber syndrome - see under SturgeWeber-Christian disease - a group of conditions with recurrent subcutaneous nodules, with or without fever or suppuration, followed by depression of the overlying skin. Synonym(s): Christian disease (2); nodular nonsuppurative panniculitisWeber-Cockayne syndrome - epidermolysis bullosa of the hands and feet.