Waardenburg综合征

Waardenburg syndrome

Waardenburg综合征是以耳聋及色素沉着异常为主要表现的遗传性疾病，由于该综合征致病基因众多，且各致病基因之间相互作用的机制又十分复杂，导致其临床表现具有高度异质性，因而给临床上该病的分型诊治造成很大困难。本文着重从该综合征的流行病学、分型、临床表现等方面进行总结阐述，以期为该病的临床诊治及科学研究提供参考依据。

Waardenburg syndrome is a hereditary disease with deafness and pigmentation abnormalities as the main manifestation. Because of its many pathogenic genes, and the mechanism of the interaction between the various pathogenic genes is very complicated, leading to a high heterogeneity of clinical manifestations, which causes great difficulties to the clinical classification of the diagnosis and treatment of the disease. This article focuses on describing the epidemiology, classification, clinical manifestations of the syndrome, in order to provide a reference for clinical diagnosis and treatment of the disease and scientific research.