Definition of Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome: A genetic disease that is characterized by hemangioblastomas (benign blood vessel tumors) in the brain, spinal cord, and retina; kidney cysts, and kidney cancer (renal cell carcinoma); pheochromocytomas (benign tumors of adrenal-like tissue); and endolymphatic sac tumors (benign tumors of the labyrinth in the inner ear). Abbreviated VHL syndrome. The brain hemangioblastomas in VHL syndrome are usually in the cerebellum and can cause headache, vomiting, and gait disturbances or ataxia (wobbliness). The hemangioblastomas in the retina can cause vision loss and may be the initial sign of VHL syndrome. The endolymphatic sac tumors can diminish hearing, which is a key symptom of VHL syndrome. VHL syndrome is inherited in an autosomal dominant manner and is caused by a change that affects the VHL gene, a tumor-suppressor gene, on chromosome 3. Molecular genetic testing for the VHL gene confirms the
diagnosis of VHL syndrome. Prenatal testing is available. Early recognition of VHL syndrome is important because it permits timely intervention and may be lifesaving. Treatment can involve
Last Editorial Review: 6/9/2016
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