CHARGE SYNDROME

Course overview

CHARGE SYNDROME IS AN INHERITED DISORDER CAUSED BY A MUTATION IN THE DNA-BINDING PROTEIN-7 CHD7 GENE. CHARGE SYNDROME IS AN ACRONYM FOR COLOBOMA, HEART DISEASE, ATRESIA OF THE CHOANAE, RETARDED GROWTH AND MENTAL DEVELOPMENT, GENITAL ANOMALIES, AND EAR MALFORMATIONS AND HEARING LOSS. CHARGE SYNDROME CAN HAVE HIGH MORBIDITY, BUT THE MORBIDITY CAN BE MINIMIZED BY EARLY DIAGNOSIS AND TREATMENT. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, EVALUATION, AND TREATMENT OF CHARGE SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING PATIENTS AND COUNSELING FAMILIES OF PATIENTS WITH THIS SYNDROME.