National Organization for Rare Disorders, Inc.
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.
- CHARGE association
- choanal atresia, posterior
- coloboma, heart, atresia of the choanae, retardation of growth and
- development, genital and urinary anomalies, and ear anomalies
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 (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 CHD7gene, or rarely, genomic alterations in the region of chromosome 8 where the CHD7 gene is located.
1825 K Street NW, Suite 1200
Washington, DC 20006
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
CHARGE Syndrome Foundation, Inc.
141 Middle Neck Rd
Sand Point, NY 11050
American Speech-Language-Hearing Association
2200 Research Boulevard
Rockville, MD 20850-3289
American Foundation for the Blind
2 Penn Plaza
New York, NY 10121
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
Helen Keller National Center for Deaf-Blind Youths and Adults
141 Middle Neck Road
Sands Point, NY 11050
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
Perkins School for the Blind
175 North Beacon Street
Watertown, MA 02472
National Consortium on Deaf-Blindness
The Teaching Research Institute
345 N. Monmouth Avenue
Monmouth, OR 97361
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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 firstname.lastname@example.org
Last Updated: 4/9/2012
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