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

Bjornstad Syndrome


Synonyms of Bjornstad Syndrome
  • Deafness and Pili Torti, Bjornstad Type
  • Pili Torti and Nerve Deafness
  • Pili Torti-Sensorineural Hearing Loss

Disorder Subdivisions



    General Discussion
    Bjornstad syndrome is an extremely rare inherited disorder characterized by the presence of abnormally flattened, twisted hair shafts (pili torti) and, in most cases, deafness (sensorineural hearing loss). Hearing loss typically affects both ears (bilateral). Individuals with this disorder usually have dry, fragile, lusterless, and/or coarse scalp hair as well as areas of patchy hair loss (alopecia). Both autosomal dominant and recessive inheritance have been reported in the medical literature.
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    Organizations related to Bjornstad Syndrome
    • Alexander Graham Bell Association for the Deaf, Inc.
      3417 Volta Place, NW
      Washington D.C. 20007-2778
      Phone #: 202-337-5220
      800 #: 866-337-5220
      e-mail: info@agbell.org
      Home page: http://www.agbell.org
    • American Academy of Audiology
      11730 Plaza America
      Reston VA 20190
      Phone #: 703-790-8466
      800 #: 800-222-2336
      e-mail: info@audiology.org
      Home page: http://www.audiology.org
    • Better Hearing Institute
      515 King Street, Suite 420
      Alexandria VA 22314
      Phone #: 703-684-3391
      800 #: 800-327-9355
      e-mail: mail@betterhearing.org
      Home page: http://www.betterhearing.org
    • Birth Defect Research for Children
      930 Woodcock Rd
      Orlando FL 32803
      Phone #: 407-895-0802
      800 #: --
      e-mail: staff@birthdefects.org
      Home page: http://www.birthdefects.org
    • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
      1 Communication Ave
      Bethesda MD 20892-3456
      Phone #: 301-402-0900
      800 #: 800-241-1044
      e-mail: nidcdinfo@nidcd.nih.gov
      Home page: http://www.nidcd.nih.gov
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info



    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