CHARGE Association is a rare disorder that results from several defects during early fetal development and affects several organ systems of the body.
What is CHARGE Association?
CHARGE is an acronym that stands for:
- Coloboma of the eye
- Heart defects
- Atresia of the Choanae
- Retardation of growth and development
- Genital and Urinary anomalies
- Ear anomalies.
Four of these characteristic findings must be present to confirm the diagnosis of CHARGE Association.
Other characteristics of CHARGE Disorder/Association
In addition to these classic findings associated with CHARGE Association, some affected infants may also have other abnormalities including characteristic facial features, paralysis of certain facial nerves (facial palsy), incomplete closure of the roof of the mouth (cleft palate), a vertical groove in the upper lip (cleft lip), an abnormal connection between the windpipe and the tube that carries food from the mouth to the stomach (tracheoesophageal fistula), and/or kidney (renal) malformations
The physical findings and symptoms of individuals with CHARGE Association may vary greatly from case to case.
Causes of CHARGE
The exact cause of CHARGE Association is not known; most cases are thought to occur randomly, for no apparent reason (sporadic). (NORD’s Rare Disease Database, 2000)