Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Birt-Hogg-Dube Syndrome


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.

    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
    • Kidney Cancer Association
      1234 Sherman Avenue
      Evanston IL 60202-1375
      Phone #: 847-332-1051
      800 #: 800-850-9132
      e-mail: office@curekidneycancer.org
      Home page: http://www.curekidneycancer.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      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/



    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