CHARGE syndrome is a pleiotropic disorder, the name of which is derived from the acronym summarizing its six clinical features: ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital anomalies, and ear anomalies/deafness. CHD7 is the only gene mutation of which is known to cause CHARGE syndrome, and the mutation is identified in approximately two-thirds of patients with a clinical diagnosis of CHARGE syndrome [1]. Here, CHD7 is linked to CHARGE syndrome.