newborn with rare mckusick syndrome

McKusick-Kaufman Syndrome [MKKS] is one of rare syndromes which presents as polydactyly, hydrometrocolpos [HMC] and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterized predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications. We hereby report a case of neonate with features of MKKS