Von Hippel Lindau Syndrome


Von Hippel-Lindau (VHL) syndrome is an autosomal dominant condition predisposing to neoplasia. It is due to an abnormality in the VHL gene located on short arm of chromosome 3

cerebellar haemangiomas
retinal haemangiomas: vitreous haemorrhage
renal cysts (premalignant)
extra-renal cysts: epididymal, pancreatic, hepatic
endolymphatic sac tumours

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