WAARDENBURG SYNDROME

Waardenburg syndrome is a rare genetic disorder characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies. Incidence is 1 in140000 to 150000.It is of 4 types, type 1 and type 2 are common. Whereas type 3 and type 4 are uncommon. All races and both sexes are affected equally. It is usually inherited as an autosomal dominant trait, but may be sporadic. Clinical features includes heterochromia, white forelock, dystopia canthorum and depigmented patches .These classical features are seen only in type 1 waardenburg syndrome. Among these the hallmark is white forelock. In type 2 dystopia canthorum is absent. Type 3 is associated with limb anomalies. Type 4 is associated with hirschsprung disease. Treatment is symptomatic.