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    Townes Brocks Syndrome

    Important
    It is possible that the main title of the report Townes Brocks Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

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

    Disorder Subdivisions

    • None

    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.

    Resources

    Alexander Graham Bell Association for the Deaf and Hard of Hearing
    3417 Volta Place NW
    Washington, DC 20007-2778
    United States
    Tel: (202)337-5220
    Fax: (202)337-8314
    Tel: (866)337-5220
    TDD: (202)337-5221
    Email: info@agbell.org
    Internet: http://www.agbell.org

    American Society for Deaf Children
    800 Florida Avenue NE
    2047
    Washington, DC 20002-3695
    Tel: (866)895-4206
    Fax: (410)795-0965
    Tel: (800)942-2732
    Email: asdc@deafchildren.org
    Internet: http://www.deafchildren.org

    National Association of the Deaf
    8630 Fenton Street
    Suite 820
    Silver Springs, MD 20910
    USA
    Tel: (301)587-1788
    Fax: (301)587-1791
    TDD: (301)587-1789
    Email: NADinfo@nad.org
    Internet: http://www.nad.org

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    Kids With Heart ~ National Association for Children's Heart Disorders, Inc.
    1578 Careful Dr.
    Green Bay, WI 54304
    Tel: (920)498-0058
    Fax: (920)498-0058
    Tel: (800)538-5390
    Email: michelle@kidswithheart.org
    Internet: http://www.kidswithheart.org

    Little Hearts, Inc.
    P.O. Box 171
    110 Court Street, Suite 3A
    Cromwell, CT 06416
    USA
    Tel: (860)635-0006
    Fax: (860)635-0006
    Tel: (866)435-4673
    Email: info@littlehearts.org
    Internet: http://www.littlehearts.org

    Congenital Heart Information Network (C.H.I.N.)
    P.O. Box 3397
    Margate City, NJ 08402-0397
    Tel: (609)823-4507
    Fax: (609)822-1574
    Email: mb@tchin.org
    Internet: http://www.tchin.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    American Academy of Audiology
    11730 Plaza America Drive, Suite 300
    Reston, VA 20190
    Tel: (703)790-8466
    Fax: (703)790-8631
    Tel: (800)222-2336
    Email: infoaud@audiology.org
    Internet: http://www.audiology.org

    Townes-Brocks Syndrome International Support Network
    Internet: http://health.groups.yahoo.com/group/Townes-Brocks-Syndrome/

    Hearing Loss Association of America
    7910 Woodmont Avenue
    Suite 1200
    Bethesda, MD 20814
    Tel: (301)657-2248
    Fax: (301)913-9413
    Email: info@hearingloss.org
    Internet: http://www.hearingloss.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/6/2007
    Copyright 1990, 1999, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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