CHARGE Syndrome affects approximately 1:10,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and only as recently as 2004 was a gene for CHARGE found. In addition to a host of other conditions, most individuals have communication-related problems, including breathing, swallowing, hearing and balance, and speech.
CHARGE is a recognizable pattern of physical anomalies that us useful for the diagnosis and can be confirmed in a genetic test.
There are four “major” anomalies that are commonly referred to as the four “C”s of CHARGE. These “C’s” are Colobomas of the eyes (an eye defect), Choanal Atresia (sinus), Cranial Nerve issues (swallow, facial palsy, smell, taste, etc.) and Characteristic Ear (can be outer ear, middle or inner or any combination of the three).
In the “minor” tier of anomalies, which are less specific to CHARGE Syndrome, can include the following; heart defects, cleft lip and/or palate, Esophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF, kidney abnormalities, genital abnormalities, growth deficiency, typical CHARGE face, palm crease and typical CHARGE behaviors.
There is another group of “other” anomolies that can be common in CHARGE Syndrome they can be viewed at the link below.
More information can be found at the CHARGE Syndrome Foundation web page.