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]. This evidence concerns the gene MBTPS2 and Aminoaciduria.