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    CHARGE Syndrome

    Important
    It is possible that the main title of the report CHARGE 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

    • CHARGE association
    • choanal atresia, posterior
    • coloboma, heart, atresia of the choanae, retardation of growth and
    • development, genital and urinary anomalies, and ear anomalies

    Disorder Subdivisions

    • None

    General Discussion

    CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children:

    (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%)
    (H) = heart defects in 75-85%, especially tetralogy of Fallot
    (A) = atresia of the choanae (blocked nasal breathing passages) (50-60%)
    (R) = retardation of growth (70-80%) and development
    (G) = genital underdevelopment due to hypogonadotropic hypogonadism
    (E) = ear abnormalities and sensorineural hearing loss (>90%)

    Diagnosis is based on a specific set of features (see below). In addition to the CHARGE features above, most children with CHARGE syndrome have other features, including characteristic facial features: asymmetric facial nerve palsy, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the wind pipe and the food pipe). The symptoms of CHARGE syndrome vary greatly from one child to another. The cause of CHARGE is usually a new mutation (change) in the CHD7gene, or rarely, genomic alterations in the region of chromosome 8 where the CHD7 gene is located.

    Resources

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    National Association for Parents of Children with Visual Impairments (NAPVI)
    P.O. Box 317
    Watertown, MA 02272-0317
    Tel: (617)972-7441
    Fax: (617)972-7444
    Tel: (800)562-6265
    Email: napvi@perkins.org
    Internet: http://www.napvi.org

    CHARGE Syndrome Foundation, Inc.
    141 Middle Neck Rd
    Sand Point, NY 11050
    USA
    Tel: (516)684-4720
    Fax: (516)883-9060
    Tel: (800)442-7604
    Email: lorib@chargesyndrome.org
    Internet: http://www.chargesyndrome.org

    American Speech-Language-Hearing Association
    2200 Research Boulevard
    Rockville, MD 20850-3289
    United States
    Tel: (301)296-5700
    Fax: (301)296-8580
    Tel: (800)638-8255
    Email: actioncenter@asha.org
    Internet: http://www.asha.org

    American Foundation for the Blind
    2 Penn Plaza
    Suite 1102
    New York, NY 10121
    Tel: (212)502-7600
    Fax: (888)545-8331
    Tel: (800)232-5463
    TDD: (212)502-7662
    Email: afbinfo@afb.net
    Internet: http://www.afb.org

    Birth Defect Research for Children, Inc.
    976 Lake Baldwin Lane
    Orlando, FL 32814
    USA
    Tel: (407)895-0802
    Email: staff@birthdefects.org
    Internet: http://www.birthdefects.org

    Helen Keller National Center for Deaf-Blind Youths and Adults
    141 Middle Neck Road
    Sands Point, NY 11050
    USA
    Tel: (516)944-8900
    Fax: (516)944-7302
    TDD: (516)944-8637
    Email: hkncinfo@hknc.org
    Internet: http://www.hknc.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

    Perkins School for the Blind
    175 North Beacon Street
    Watertown, MA 02472
    Tel: (617)924-3434
    Fax: (617)926-2027
    Email: Info@Perkins.org
    Internet: http://www.Perkins.org

    National Consortium on Deaf-Blindness
    The Teaching Research Institute
    345 N. Monmouth Avenue
    Monmouth, OR 97361
    Tel: (800)438-9376
    Fax: (503)838-8150
    Tel: (800)438-9376
    TDD: (800)854-7013
    Email: info@nationaldb.org
    Internet: http://www.nationaldb.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: 4/9/2012
    Copyright 1988, 1988, 1990, 1996, 1997, 1998, 2000, 2002, 2007, 2008, 2012 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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