瓦登伯革综合征（Waardenburg Syndrome，简称WS ），也叫瓦登伯革症候群，是一种罕见遗传性疾病，1951年由荷兰眼科学家及遗传学家Waardenburg首次描述主要临床特征而命名 。发病率在1:32400至1:42000之间，因神经嵴细胞发育异常致病，相关致病基因有PAX3、MITF等6个 。
主要表现为感音神经性聋、皮肤低色素或色素沉着、白额发或早白发、虹膜异色（如蓝眼珠 ，视力不受影响）等；还可能有内眦外移、一字眉、高宽鼻根、鼻翼发育不良、先天性巨结肠、肢体肌肉痉挛等次要表现 。治疗方面，基因治疗尚在研究，现有干预以对症为主，像听力障碍者可通过助听器、人工耳蜗改善，早发现早干预，多数患者语言康复效果好 。
Waardenburg Syndrome (WS), also known as Waardenburg complex, is a rare genetic disorder. It was first described by Dutch ophthalmologist and geneticist Waardenburg in 1951, hence the name. The incidence ranges from 1:32,400 to 1:42,000. It is caused by abnormal development of neural crest cells, with six related pathogenic genes including PAX3 and MITF.
Key manifestations include sensorineural hearing loss, hypopigmentation or hyperpigmentation of the skin, a white forelock or premature graying of hair, and heterochromia iridis (e.g., blue eyes, with no impact on vision). Secondary features may involve dystopia canthorum, unibrow, a broad and high nasal root, underdeveloped nasal alae, Hirschsprung's disease, limb muscle spasms, etc. For treatment, gene therapy is still under research. Current interventions focus on symptom relief. For example, hearing - impaired patients can use hearing aids or cochlear implants. Early detection and intervention can lead to good language rehabilitation outcomes for most patients.
