The term CHARGE is an acronym in which each letter represents one of the symptoms typical of the syndrome. C stands for "Coloboma", referring to an ocular congenital malformation, a slit defect in one of the eye's structures, and, just like the other congenital malformation present in cases of CHARGE syndrome, occurs during the early foetal stages. H stands for "Heart defect", which is to say a congenital malformation of the heart. A stands for "Atresia of the choanae", i.e. narrow posterior nasal openings. R stands for "Retardation of growth and/or development", meaning stunted growth and/or intellectual disability. G stands for "Genital defects" and refers to the presence of underdeveloped genitals. E stands for "Ear anomalies and/or deafness", i.e. congenital ear malformations and/or hearing impairment/deafness.
Other common symptoms include cleft lip, jaw, and/or palate, impact on cranial nerves and congenital malformation of the urinary tract or kidneys. Children with CHARGE syndrome may also be born with a gateway directly connecting the trachea and oesophagus (tracheoesophageal duct).
Several cranial nerves can be affected and cause weakening of facial muscles, impaired palatal function and difficulties with swallowing. Sense of smell may be impaired. In order to meet criteria for CHARGE syndrome, a certain number of the symptoms described must be present.
Prevalence has been estimated at approximately one in 10,000 live births.