National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Birt-Hogg-Dubé Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Birt-Hogg-Dubé (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of skin papules generally located on the head, face and upper torso. These benign tumors (hamartomas) of the hair follicle are called fibrofolliculomas. BHD syndrome also predisposes individuals to the development of benign cysts in the lungs, repeated episodes of a collapsed lung (pneumothorax), and increased risk for developing renal neoplasia. BHD syndrome is caused by mutations in the FLCN (alias BHD) gene and is inherited as an autosomal dominant trait.
American Cancer Society, Inc.
- 250 Williams NW St
- Ste 6000
- Atlanta, GA 30303
- Tel: (404)320-3333
- Tel: (800)227-2345
- Website: http://www.cancer.org
- BHD Foundation c/o Myrovlytis Trust
- 26 Cadogan Square
- London SW1X 0JP
- Tel: +44 (0) 207 052 0088
- Email: contact@BHDSyndrome.org
- Website: http://www.BHDSyndrome.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Kidney Cancer Association
- P.O. Box 803338 #38269
- Chicago, IL 60680-3338
- Tel: (847)332-1051
- Fax: (847)332-2978
- Tel: (800)850-9132
- Email: email@example.com
- Website: http://www.curekidneycancer.org
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
- 26 Cadogan Square
- London, SW1X 0JP
- United Kingdom
- Tel: +44 (0)20 7193 8921
- Email: firstname.lastname@example.org
- Website: http://www.myrovlytistrust.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
Rare Cancer Alliance
- 1649 North Pacana Way
- Green Valley, AZ 85614
- Website: http://www.rare-cancer.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 email@example.com
Last Updated: 12/29/1969
Copyright 2015 National Organization for Rare Disorders, Inc.
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