Mutations in CHD7 cause CHARGE syndrome, which is characterized by CL/P (in 20–36% of the cases), abnormal middle and external ear, coloboma, choanal atresia and hypoplastic semi-circular canals, rhombencephalic dysfunction, hypothalamo- hypophyseal dysfunction, mental retardation, and tracheoesophageal fistula, but do not contribute to nonsyndromic CL/P [65]. This evidence concerns the gene CHD7 and coloboma.