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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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The information in NORD's Rare Disease Database is for educational purposes only. It
should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
professional. NORD's reports provide a brief overview of rare diseases. For more specific
information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 2007
NORD would like to acknowledge the assistance provided by Laura S. Schmidt, PhD,
Principal Scientist at the Basic Research Program, SAIC-Frederick, Inc., Urologic Oncology Branch National Cancer Institute-Frederick, for the creation of this report.
Synonyms of Birt-Hogg-Dube Syndrome
- BHD Syndrome
- Hornstein-Knickenberg Syndrome
Disorder Subdivisions
General Discussion
Birt-Hogg-Dube (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of benign skin (hamartomas) affecting the head, face and upper torso. These benign tumors are fibrofolliculomas, the hair follicles. BHD syndrome also predisposed 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 BHD gene and is inherited as an autosomal dominant trait.
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Organizations related to Birt-Hogg-Dube Syndrome
- American Cancer Society, Inc.
1599 Clifton Road NE
Atlanta GA 30329
Phone #: 404-320-3333
800 #: 800-227-2345
e-mail: N/A
Home page: http://www.cancer.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Kidney Cancer Association
1234 Sherman Avenue
Suite 203
Evanston IL 60202-1375
Phone #: 847-332-1051
800 #: 800-850-9132
e-mail: kidney.cancer@hotmail.com
Home page: http://www.curekidneycancer.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-496-8188
800 #: 877-226-4267
e-mail: NAMSIC@mail.nih.gov
Home page: http://www.nih.gov/niams/
- Rare Cancer Alliance
1649 North Pacana Way
Green Valley AZ 85614
Phone #: 520-625-5495
800 #: --
e-mail: sharon.lane@rare-cancer.org
Home page: http://www.rare-cancer.org
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