Furthermore, KFSDX has been linked to various disorders, including cutis laxa, big pinnae, clinodactyly, arachnodactyly, Noonan’s syndrome, deafness, aminoaciduria, mental retardation, Down’s syndrome, congenital glaucoma, lenticular cataract, hepatomegaly, and bilateral inguinal hernia [2,3,7]. The gene discussed is MBTPS2; the disease is Noonan syndrome.