Skip to Content

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

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.