A rare genetic disorder: Waardenburg syndrome

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 four types differing phenotypic characteristics described. This characterized by congenital deafness or some degree hearing loss, different color eyes with various depigmentation skin hair, increased inter-canthal distance, Dystopia Canthorum. In this report a case has been discussed finding 30 years old male patient syndrome.