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CHARGE Syndrome
Abstract
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NORD is very grateful to John M. Graham, Jr., MD, ScD, 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
- No subdivisions found.
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 (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.
Organizations related to CHARGE Syndrome
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., visual handicaps, heart disease, short stature, etc.)
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