Waardenburg-Shah Syndrome

This syndrome combines the symptoms of Waardenburg Syndrome (a lack of pigmentation and neuro-sensorial deafness) with Hirchprung’s Disease (distal colonic aganglionosis, in other words the partial or total absence of nerve ganglions which allow the colon to work as it should). It is characterised by an ensemble of congenital malformations which affect the eyes, nose and ears: a shifting of the lacrimal puncta, an enlargement of the base of the nose, pigmentation anomalies (of the iris, for example, or the presence of white streaks in the hair) and deafness.