Vaginal atresia is found in various syndromes, mainly Winter syndrome (characterized by renal, genital, and middle ear anomalies) (OMIM 267400) [98,99], and McKusick-Kaufman syndrome, which associates hydrometrocolpos, postaxial polydactyly and congenital heart malformation (OMIM 236700) and is due to mutations in the MKKS gene located on chromosome 20p12 [100]. Here, MKKS is linked to McKusick-Kaufman syndrome.