Mutations in the FGFR2 gene have been associated with skeletal abnormalities [36] and Lacrimo-auriculo-dento-digital (LADD [MIM 149730]) syndrome, a disorder characterized by hearing loss, deformity in the network of structures of the eye, lacrimal-duct aplasia, and malformations of teeth, forearms, and fingers. Here, FGFR2 is linked to Down syndrome.