McKusick-Kaufman syndrome

McKusick-Kaufman syndrome

Definition

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.

Also known as hydrometrocolpos-postaxial polydactyly syndrome, Kaufman-Mckusick syndrome, McKusick-Kaufman syndrome — per MONDO

Also identified as