Waardenburg Syndrome in an 8 Year Old African Child: Case Report

Aim: Waardenburg syndrome is a very rare condition, inherited autosomally with genetic heterogeneity and characterized by deafness, hair discoloration, iris discoloration and eyelid changes. 

Case Report: We report a case of an 8 year old female child with a history of a striking difference between the eyes since birth. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia Canthorum]. The Iris was hypopigmented and bluish in colour in the right eye, whilst the left Iris was brown and darkly pigmented.

Discussion: The diagnosis of WS is considered if there are 2 major or 1 major and 2 minor criteria according to Waardenburg consortium. Our patient had 2 major criteria viz pigmentary disturbances of the iris and dystopia canthorum. Waardenburg syndrome is sub classified into 4 types. The management of Waardenburg's syndrome, comprises early detection and referral to the appropriate unit including audiology, correction for refractive error and use of cosmetic contact lenses.

Conclusion: Waardenburg syndrome is a rare disease. In all suspected patient, hearing impairment, severe musculoskeletal contractures and Hirschsprungs disease should be ruled out.