In 2004, CHD7 was described as the major gene involved in the CHARGE syndrome [1], a complex genetic disorder related to multiple birth malformations and functional disorders, including ocular coloboma (C), heart disease (H), choanal atresia (A), retarded growth and/or anomalies of the central nervous system (R), genito-urinary defects and/or hypogonadism (G), and ear anomalies and/or deafness (E) [2]. The gene discussed is CHD7; the disease is CHARGE syndrome.