MBTPS2 and Down syndrome: 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].