Von Hippel-Lindau Syndrome
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NORD is very grateful to Joyce Graff and medical advisors of the VHL Family Alliance (vhl.org) for assistance in the preparation of this report.
Synonyms of Von Hippel-Lindau Syndrome
- angiomatosis retinae
- Lindau disease
- retinocerebellar angiomatosis
- VHL syndrome
- Von Hippel Lindau disease
- No subdivisions found.
Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas or hemangioblastomas. These may develop in the retinas of the eyes (retinal hemangioblastomas) or in the brain or spinal cord, or in the inner ear (endolymphatic sac tumors). Vascular tumors may also occur in the kidneys (renal cell carcinoma), pancreas (cysts, microcystic cystadenomas, or pancreatic neuroendocrine tumors) and/or adrenal glands (pheochromocytoma). The symptoms of VHL vary greatly and depend on the size and location of the growths.
Organizations related to Von Hippel-Lindau Syndrome
NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.
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