CHARGE Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report CHARGE Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The CHARGE acronym 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 CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.2 where the CHD7 gene is located. Among 18 Danish CHD7 mutation-positive CHARGE individuals, the following cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; choanal atresia, 7/17; retarded growth and development, 11/13; genital abnormalities, 5/18; ear anomalies, 15/17 and sensorineural hearing loss, 14/15. Vestibular dysfunction (10/13) and swallowing problems (12/15) were other frequent cranial nerve dysfunctions. Three-dimensional reconstructions of MRI scans showed temporal bone abnormalities in over 85%.

Supporting Organizations

American Academy of Audiology

11480 Commerce Park Drive
Suite 220
Reston, VA 20191
Tel: 703-790-8466
Fax: 703-790-8631
Tel: 800-222-2336
Email: infoaud@audiology.org
Website: http://www.audiology.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
Email: afbinfo@afb.net
Website: http://www.afb.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
Website: http://www.asha.org

Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane
Orlando, FL 32814
USA
Tel: (407)895-0802
Email: staff@birthdefects.org
Website: http://www.birthdefects.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
Website: http://www.chargesyndrome.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
Website: http://rarediseases.info.nih.gov/GARD/

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
Email: hkncinfo@hknc.org
Website: http://www.hknc.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
Website: http://www.letthemhear.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
Website: http://www.napvi.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
Email: info@nationaldb.org
Website: http://www.nationaldb.org

Perkins School for the Blind

175 North Beacon Street
Watertown, MA 2472
Tel: (617)924-3434
Fax: (617)926-2027
Email: Info@Perkins.org
Website: http://www.Perkins.org

The Arc

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  11/3/2015
Copyright  2015 National Organization for Rare Disorders, Inc.