Clinical Features of Von Hippel Lindau Syndrome (VHL)

Von Hippel-Lindau Syndrome is a rare hereditary tumor syndrome associated with a number of tumors.

Genetic locus: VHL on 3p25-26

Inheritance: autosomal dominant with high rate of expression and variable expression

Clinical findings may include:

(1) clear cell renal carcinoma (bilateral and/or multifocal)

(2) renal cysts (bilateral and/or multifocal)

(3) CNS hemangioblastoma (cerebellar, spinal)

(4) endolymphatic sac tumor

(5) retinal angioma

(6) pancreatic cysts

(7) pancreatic tumor (microcystic adenoma, islet cell tumor)

(8) pheochromocytoma

(9) epididymal cystadenoma

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Clinical Features of Von Hippel-Lindau Syndrome (VHL)