本征的表现在1951年由Waardenburg所明确,最初描述包括下列畸形:(1)面容:内眦外移、宽鼻根及并连眉;(2)眼系统:虹膜异色(双虹膜色素不同);(3)听系统:双侧或单侧的感觉神经性耳聋(约20%);(4)皮肤系统:前额中部发际白发症。患者并非都具有上述病征的完整表现,但往往尚有其他缺陷。本征呈常染色体显性遗传而有不同程度的突变。在先天性耳聋中本病占1～7%。 The intrinsic manifestation was defined by Waardenburg in 1951. The original description included the following deformities: (1) Face: internal emmenion exotropia, broad nasal root and conjoined eyebrows; (2) Ocular system: iris heterochromatic ); (3) Listening system: bilateral or unilateral sensory neuropathy deafness (about 20%); (4) skin system: middle frontal hairline. Patients do not all have the full manifestations of the above symptoms, but often have other shortcomings. Intrinsic autosomal dominant inheritance with varying degrees of mutation. In congenital deafness in the disease accounted for 1 to 7%.