Otofaciocervical syndrome (OFC) is an inherited disorder characterized by facial dysmorphism, external ear anomalies and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability. OFC1, inherited as an autosomal dominant trait, is caused by mutations in the EYA1 gene. And OFC2, inherited as an autosomal recessive trait, is caused by mutations in the PAX1 gene.
