Diseases & Conditions


CHARGE Syndrome

Synonyms of CHARGE Syndrome
  • 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

    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 and cranial nerve abnormalities?defects of the eyeball
    (H) = heart defects
    (A ) = atresia of the choanae (blocked nasal breathing passages)
    (R) = retardation of growth and development
    (G) = genital and urinary abnormalities
    (E) = ear abnormalities and hearing loss

    Diagnosis is based on a different set of features (see below). In addition to the CHARGE features, most children with CHARGE syndrome have other features, including characteristic facial features, 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 exact cause of CHARGE is not known. Most cases occur randomly, for no apparent reason (sporadic). There are a few familial cases.

    Organizations related to CHARGE Syndrome
    • American Academy of Audiology
      11730 Plaza America
      Reston VA 20190
      Phone #: 703-790-8466
      800 #: 800-222-2336
      e-mail: [email protected]
      Home page: http://www.audiology.org
    • American Foundation for the Blind
      11 Penn Plaza
      New York NY 10001
      Phone #: 212-502-7600
      800 #: 800-232-5463
      e-mail: [email protected]
      Home page: http://www.afb.org
    • American Speech-Language-Hearing Association
      10801 Rockville Pike
      Rockville MD 20852
      Phone #: 800-321-2742
      800 #: 800-321-2742
      e-mail: [email protected]
      Home page: http://www.asha.org
    • Birth Defect Research for Children
      930 Woodcock Rd
      Orlando FL 32803
      Phone #: 407-895-0802
      800 #: --
      e-mail: [email protected]
      Home page: http://www.birthdefects.org
    • CHARGE Syndrome Foundation, Inc.
      409 Vandiver Drive
      Columbia MO 65202-1563
      Phone #: 410-272-3839
      800 #: 800-442-7604
      e-mail: [email protected]
      Home page: http://www.chargesyndrome.org
    • Congenital Heart Anomalies, Support, Education, & Resources
      2112 North Wilkins Road
      Swanton OH 43558
      Phone #: 419-825-5575
      800 #: --
      e-mail: [email protected]
      Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
    • Helen Keller National Center for Deaf-Blind Youths and Adults
      141 Middle Neck Road
      Sands Point NY 11050
      Phone #: 516-944-8900
      800 #: --
      e-mail: [email protected]
      Home page: http://www.hknc.org
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: [email protected]
      Home page: http://www.letthemhear.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.madisonsfoundation.org
    • National Association for Parents of Children with Visual Impairments (NAPVI)
      P.O. Box 317
      Watertown MA 02472
      Phone #: 617-972-7441
      800 #: 800-562-6265
      e-mail: [email protected]
      Home page: http://www.napvi.org
    • National Consortium on Deaf-Blindness (NCDB)
      The Teaching Research Institute
      Monmouth OR 97361
      Phone #: 800-438-9376
      800 #: 800-438-9376
      e-mail: [email protected]
      Home page: http://www.nationaldb.org
    • Perkins School for the Blind
      175 North Beacon St.
      Watertown MA 02472
      Phone #: 617-924-3434
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.Perkins.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: [email protected]
      Home page: http://www.thearc.org/

    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