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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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"Resources" on this report.
Copyright 1988, 1988, 1990, 1996, 1997, 1998, 2000, 2002, 2007, 2008
NORD is very grateful to John M. Graham, JR., M.D., Sc.D., Director of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, for assistance in the preparation of this report.
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 Drive, Suite 300
Reston VA 20190
Phone #: 703-790-8466
800 #: 800-222-2336
e-mail: infoaud@audiology.org
Home page: http://www.audiology.org
- American Foundation for the Blind
2 Penn Plaza, Suite 1102
New York NY 10021
Phone #: 212-502-7600
800 #: 800-232-5463
e-mail: afbinfo@afb.net
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: actioncenter@asha.org
Home page: http://www.asha.org
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Birth Defect Research for Children, Inc.
800 Celebration Ave, Suite 225
Orlando FL 34747
Phone #: 407-566-8304
800 #: --
e-mail: staff@birthdefects.org
Home page: http://www.birthdefects.org
- CHARGE Syndrome Foundation, Inc.
141 Middle Neck Rd.
Sands Point NY 11050
Phone #: 516-684-4720
800 #: 800-442-7604
e-mail: info@chargesyndrome.org
Home page: http://www.chargesyndrome.org
- Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: myer106w@wonder.em.cdc.gov
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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: hkncinfo@hknc.org
Home page: http://www.hknc.org
- Let Them Hear Foundation
1900 University Avenue, Suite 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
- 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
- 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: napvi@perkins.org
Home page: http://www.napvi.org
- National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
Monmouth OR 97361
Phone #: 800-438-9376
800 #: 800-438-9376
e-mail: info@nationaldb.org
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: Info@Perkins.org
Home page: http://www.Perkins.org
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