MBTPS2 and cutis laxa: 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].