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Von Hippel-Lindau syndrome

Background

Von Hippel-Lindau (VHL) syndrome is an uncommon genetic disorder in which tumours and cysts occur in a variety of organs. Most frequently these are the cerebellum (hind part of the brain), the spinal cord, the kidneys, the pancreas and the retina of the eye. Angiomas (enlarged blood vessels) can occur on the retina, while haemangioblastomas (benign cysts or tumours) may occur in the cerebellum or spinal cord. Kidney tumours and cysts are common and early detection of kidney tumours is important. Phaeochromocytomas occur in about ten per cent of patients, pancreatic tumours in up to ten per cent and endolymphatic sac tumours (causing deafness) occur in up to fifteen per cent. Pancreatic and epididymal cysts are common but rarely cause clinical problems.

What are the symptoms? View What are the symptoms?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, UK. Last updated August 2004 by Professor E R Maher , Professor of Medical Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, UK.

 

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