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

DOOR Syndrome


Synonyms of DOOR Syndrome
  • Deafness, Onychodystrophy, Osteodystrophy,and Mental Retardation
  • DOOR(S) Syndrome

Disorder Subdivisions



    General Discussion
    DOOR syndrome is a rare genetic disorder that may be recognized shortly after birth. DOOR, an acronym for characteristic abnormalities associated with the syndrome, stands for (D)eafness due to a defect of the inner ear or auditory nerve (sensorineural hearing loss); (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation. In addition, in some cases, affected infants may have sudden episodes of uncontrolled electrical activity in the brain (seizures). Distinctive nail abnormalities may include underdeveloped, misshapen, or absent fingernails and/or toenails, while characteristic bone malformations may consist of an extra small bone in the thumbs and/or great toes (triphalangy) and/or underdevelopment (hypoplasia) of bones in other fingers and/or toes. DOOR syndrome is inherited as an autosomal recessive trait.
    .

    Organizations related to DOOR Syndrome
    • 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
    • American Society for Deaf Children
      PO Box 3355
      Gettysburg PA 17325
      Phone #: 800-942-6084
      800 #: 800-942-2732
      e-mail: ASDC1@aol.com
      Home page: http://www.deafchildren.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
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: postmaster@efa.org
      Home page: http://www.epilepsyfoundation.org
    • 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
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/



    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