CHARGE syndrome

Abstract

CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1:8500 to 1:10, 000. The only known genetic etiology for CHARGE syndrome is CHD-7, which accounts for up to 65% of cases. Prenatal diagnosis can be made using ultrasound and amniocentesis for CHD-7 molecular genetic testing. Postnatal management should consist of a multidisciplinary team approach to correct structural defects and assess and treat developmental and cognitive impairments.