Health Library CHARGE SyndromeFrom Healthwise

National Organization for Rare Disorders, Inc.

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.

• Coloboma, Heart, Atresia of the Choanae, Retardation of Growth and
• Development, Genital and Urinary Anomalies, and Ear Anomalies
• CHARGE Association
• Choanal Atresia, Posterior

• None

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.

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
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 02472
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.
409 Vandiver Drive
Suite 5-104
Columbia, MO 65202-1563
USA
Tel: (410)272-3839
Fax: (410)272-1281
Tel: (800)442-7604
Email: marion@chargesyndrome.org
Internet: http://www.chargesyndrome.org

American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville, MD 20852
United States
Tel: (800)321-2742
Fax: (301)571-0457
Tel: (800)321-2742
TDD: (301)897-5700
Email: actioncenter@asha.org
Internet: http://www.asha.org

American Foundation for the Blind
11 Penn Plaza
Suite 300
New York, NY 10001
Tel: (212)502-7600
Fax: (212)502-7777
Tel: (800)232-5463
TDD: (212)502-7662
Email: afbinfo@afb.org
Internet: http://www.afb.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton, OH 43558
Tel: (419)825-5575
Fax: (419)825-2880
Email: chaser@compuserve.com
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

Birth Defect Research for Children
930 Woodcock Rd
Suite 225
Orlando, FL 32803
USA
Tel: (407)895-0802
Fax: (407)895-0824
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)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/10000409

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 Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

Perkins School for the Blind
175 North Beacon St.
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 (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
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

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

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:  11/12/2008
Copyright  1988, 1988, 1990, 1996, 1997, 1998, 2000, 2002, 2007, 2008 National Organization for Rare Disorders, Inc.

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