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Von Hippel-Lindau Syndrome

Von Hippel-Lindau (VHL) syndrome is an inherited disorder that causes the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.

Features of the condition

• Blood vessel tumor (hemangioblastoma) of the retina, brain, or spinal cord
• Kidney cysts or cancer
• Pheochromocytoma (adrenal gland tumor)
• Pancreatic cysts or tumors
• Endolymphatic sac (inner ear) tumors
• Epididymal (male reproductive tract) tumors

Risk Factors

• Having two or more of the features above
• Having one of the features above and a family history of VHL

Genetic Tests

The following genetic tests may be appropriate based on your personal and/or family history:

• VHL

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Resources

American Society of Clinical Oncology

VHL Family Alliance

NIH Genetics Home Reference