Gene responsible for severe facial defects identified

Scientists have identified a gene that causes one form of Goldenhar syndrome, a rare congenital disorder that affects the development of the face, ears, and eyes. The gene FOXI3 is involved in developing the ear, face, and eyes. Pathogenic variants in the FOXI3 gene can disrupt the development of these structures, leading to a range of symptoms, including microtia, aural atresia, and facial asymmetry.