Rendu-Osler-Weber disease
Rendu-Osler-Weber disease (aka Hereditary haemorrhagic telangiectasia (HHT)) is an autosomal dominant disorder characterised by epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVMs).
Tag Frederick Parkes Weber
Frederick Weber
Frederick Parkes Weber (1863–1962) English physician and dermatologist; author of over 1,200 medical articles; described Rendu-Osler-Weber disease and Sturge-Weber-Kalischer syndrome; renowned numismatist and scholar of medical philosophy.
Weber-Cockayne syndrome
Weber-Cockayne syndrome: a mild, localised form of epidermolysis bullosa simplex, causing recurrent blistering of the palms and soles due to KRT5 or KRT14 mutations.