McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. The disease is McKusick-Kaufman syndrome (MONDO_0009367). Also known as: Kaufman-Mckusick syndrome, hydrometrocolpos-postaxial polydactyly syndrome.