Waardenburg Syndrome

Genetic syndrome with pigment changes and hearing loss

Overview

Waardenburg syndrome is a group of genetic conditions caused by variants in genes such as PAX3, MITF, SOX10, EDNRB, and EDN3, which affect neural crest cells that give rise to pigment cells and to the melanocytes needed for normal function of the inner ear. Characteristic features include striking blue eyes or eyes of different colours, a white forelock, early greying, patches of lighter skin, a wide bridge of the nose, and in type 1 a lateral displacement of the inner corners of the eyes. Sensorineural hearing loss ranges from none to profound, may affect one or both ears, and is usually congenital and non progressive. Four types are recognized, type 4 combining the features with Hirschsprung disease. The estimated prevalence is about 1 in 42,000, and it accounts for a small percentage of congenital deafness. It is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who described it in 1951. Hearing management ranges from monitoring to hearing aids and cochlear implants.