A rare genetic disorder: Waardenburg syndrome

Abstract

Waardenburg syndrome is an inherited autosomal dominant disorder consists group of rare genetic conditions. Mutation in the PAX3, MITF, SOX10 and SNAI2 genes are known as main cause for it. There are four types of Waardenburg syndrome differing in phenotypic characteristics are described. This syndrome is characterized by congenital deafness or some degree of hearing loss, different color of eyes with various degree of depigmentation of skin and hair, increased inter-canthal distance, Dystopia Canthorum. In this report a case has been discussed of finding a 30 years old male patient with Waardenburg syndrome.