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von Hippel-Lindau syndrome

Pronunciation: fan hip'el lan'dow

Definition: a type of phacomatosis, consisting of retinal vascular malformations, which may be multiple and bilateral, associated with hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with renal cell carcinomas or cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance due to mutation in the von Hippel-Lindau gene (VHL) on 3p.

Synonym(s): cerebroretinal angiomatosis, Hippel disease, Lindau disease, von Hippel disease

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.