A Review on McKusick-Kaufman Syndrome

Abstract

McKusick-Kaufman syndrome is one of the most underdiagnosed and underreported cases in the world. In family with no previous history, the condition is not at all suspected and is often diagnosed only during postnatal examination. As a cause of multiple malformations, the prognosis of which can be improved by risk assessment and genetic counselling, the condition demands early detection and identification. Also, it is vital to differentiate MKKS from Bardet- Biedl syndrome which has similar clinical presentation. Keywords: McKusick Kaufman syndrome, Bardet- Biedl Syndrome, Hydrometrocolpos, polydactyly.