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Von Hippel-Lindau syndrome

What are the symptoms?

The presenting symptoms vary greatly in individual cases. This means that in different generations, or among siblings, affected individuals will not have the same organ affected: for example, one individual may have an affected kidney whilst in another individual the eyes are affected.

Early childhood onset is infrequent and but can occur and so surveillance should be started in the first few years of life. Most, people with VHL develop clinical complications between the age of fifteen to thirty years but, in some cases, no effects are noted until after the age of 50. Hence it is important that all individuals at risk are offered screening for subclinical involvement. Detailed information and advice on screening and follow-up is available from local Genetics Centres.

View Background Background  |  What are the causes? View What are the causes?

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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