Diseases & Conditions


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Townes Brocks Syndrome


Synonyms of Townes Brocks Syndrome
  • Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs
  • Imperforate Anus with Hand, Foot and Ear Anomalies
  • Townes Syndrome

Disorder Subdivisions



    General Discussion
    Townes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalities in the feet, heart and kidneys also occur frequently. Townes-Brocks syndrome is associated with a mutation in the SALL1 gene.

    Organizations related to Townes Brocks 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
    • 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
    • Congenital Heart Information Network
      1561 Clark Dr
      Yardley PA 19067
      Phone #: 215-493-3068
      800 #: --
      e-mail: mb@tchin.org
      Home page: http://www.tchin.org
    • Genetic and Rare Diseases (GARD) Information Center
      PO Box 8126
      Gaithersburg MD 20898-8126
      Phone #: 301-519-3194
      800 #: 888-205-2311
      e-mail: gardinfo@nih.gov
      Home page: http://www.genome.gov/10000409
    • Kids With Heart National Association for Children's Heart Disorders, Inc.
      1578 Careful Dr
      Green Bay WI 54304-2941
      Phone #: 920-498-0058
      800 #: 800-538-5390
      e-mail: kidswithheart@greenbaynet.com
      Home page: http://www.kidswithheart.org
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: info@letthemhear.org
      Home page: http://www.letthemhear.org
    • Little Hearts, Inc.
      P.O. Box 171
      Cromwell CT 06416
      Phone #: 860-635-0006
      800 #: 866-435-4673
      e-mail: info@littlehearts.org
      Home page: http://www.littlehearts.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Eye Institute
      Building 31 Rm 6A32
      Bethesda MD 20892-2510
      Phone #: 301-496-5248
      800 #: --
      e-mail: 2020@nei.nih.gov
      Home page: http://www.nei.nih.gov/
    • National Association of the Deaf
      814 Thayer Avenue
      Silver Spring MD 20910-4500
      Phone #: 301-587-1788
      800 #: --
      e-mail: NADinfo@nad.org
      Home page: http://www.nad.org
    • Townes-Brocks Syndrome International Support Network
      None
      None None None
      Phone #: N/A
      800 #: N/A
      e-mail: N/A
      Home page: http://health.groups.yahoo.com/group/Townes-Brocks-Syndrome/



    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