ASSOCIATION OF WAARDENBURG SYNDROME AND HIRSCHSPRUNG MEGACOLON

Like many other autosomal dominant disorders, the Waardenburg syndrome is characterized by highly variable expressivity and incomplete penetrance. The main manifestations are lateral displacement of the medial canthi; hypopigmentation of the hair, skin, fundus, and irides; heterochromia; and impaired hearing, with deafness in about 20% of heterozygotes. Waardenburg syndrome with deafness occurs with a frequency of 2 cases per 100,000 general population and represents 2-5% of cases of profound childhood deafness. The authors have noted individual patients who had Waardenburg syndrome together with Hirschsprung aganglionic megacolon and have sought to elicit from colleagues additional cases of this association. They describe four patients with Waardenburg syndrome and Hirschsprung aganglionic megacolon. In view of pathophysiologic relationships and animal studies, they conclude that the association of these two uncommon disorders is pathophysiologically significant.