CHARGE Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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