Von Hippel-Lindau Syndrome

Synonyms

• Angiomatosis Retinae
• Lindau Disease
• Retinocerebellar Angiomatosis
• VHL
• VHL syndrome
• Von Hippel Lindau disease

Disorder Subdivisions

• None

General Discussion

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 or pancreatic neuroendocrine tumors) and/or adrenal glands (pheochromocytoma). The symptoms of von Hippel-Lindau vary greatly and depend on the size and location of the growths.

Resources

VHL Family Alliance
2001 Beacon Street
Suite 208
Boston, MA 02135
USA
Tel: 6172775667
Fax: 8587128712
Tel: 8007674845
Email: info@vhl.org
Internet: http://www.vhl.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

VHL Family Alliance, UK
171 Clinton Road
Brookline, MA 02445-5815
Tel: (617)277-5667
Fax: (585)712-8712
Tel: (800)767-4845
Email: uk@vhl.org
Internet: http://www.vhl.org

Kidney Cancer Association
1234 Sherman Avenue
Suite 203
Evanston, IL 60202-1375
USA
Tel: 8473321051
Fax: 8473322978
Tel: 8008509132
Email: office@curekidneycancer.org
Internet: http://www.curekidneycancer.org

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/100000409 or http://rarediseases.info.nih.gov/html/resources/info_cntr.html

People Living With Cancer
1900 Duke Street
Suite 200
Alexandria, VA 22314
Tel: (703)299-0150
Fax: (703)684-8618
Tel: (888)651-3038
Email: contactus@plwc.org
Internet: http://www.plwc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 5/7/2007
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