CHARGE Syndrome

CHARGE syndrome affects approximately one out of every 10,000 births worldwide. CHARGE syndrome is a genetic birth defect that is very complex and often there is no other history of the disorder in the family.

CHARGE stands for: C=Colobomas and cranial nerves H=Heart problems A=Atresia of the choanae R=Retardation of growth G=Genital and urinary abnormalities E=Ear and hearing abnormalities.

Babies that are born with CHARGE syndrome often have heart defects and respiratory complications that are often life-threatening. Some major features of a baby with CHARGE syndrome include small eyes, coloboma of the iris, retina, choroid or disk and a possible absent eye in addition to malformed ears. Cranial nerve abnormalities are likely and almost all children that suffer from the disorder experience a decreased sense of smell and facial palsy.

Cleft lip/palate, kidney abnormalities and genital abnormalities are common. Other symptoms of the disorder are swallowing complications, hearing loss, vision loss, developmental delays, lack of muscle tone and balance problems. A child with CHARGE syndrome will have distinct facial features, which include a square face and a prominent forehead, arched eyebrows, large eyes, thickened nostrils, flattened midface, small mouth and facial asymmetry.

A doctor will make a diagnosis based on physical examinations.