CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report

CHARGE syndrome, short for coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies, is a rare congenital disorder caused by genetic mutations. The diagnosis is based on a combination of major criteria, such as coloboma of the iris or choroid, choanal atresia, and hypoplastic semicircular canal, and minor criteria, including rhombencephalic dysfunction, hypothalamic-pituitary dysfunction, and malformations of the middle or external ear. Additional associated anomalies include malformations of mediastinal organs (heart, esophagus) and intellectual disability. We present the case of a six-month-old infant who showed signs of facial dysmorphism, delayed growth, and impaired psychomotor development. Ophthalmologic evaluation revealed chorioretinal coloboma. Cardiac ultrasound revealed a persistent ventricular septal defect. Based on the combination of the clinical findings, CHARGE syndrome was suspected and subsequently confirmed by genetic testing.