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Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome) is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. It was first described in 1951. == Eponyms and classification == Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg (1886–1979), who described the syndrome in detail in 1951.〔 The condition he described is now categorized as WS1. Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome. WS2 was identified in 1971, to describe cases where dystopia canthorum did not present. WS2 is now split into subtypes, based upon the gene responsible. Other types have been identified, but they are less common. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes are implicated in Waardenburg Syndrome. Some of these genes are involved in the making of melanocytes, which makes the pigment melanin. Melanin is an important pigment in the development of hair, eye color, skin, and functions of the inner ear. So the mutation of these genes can lead to abnormal pigmentation and hearing loss.〔Kumar, Sudesh, and Kiran Rao. "Waardenburg Syndrome: A Rare Genetic Disorder, A Report of Two Cases." Indian Journal of Human Genetics 18.2 (2012): 254-255. Academic Search Premier. Web. 4 Apr. 2014.,〕 PAX3 and MTIF gene mutation occurs in type I and II (WS1 and WS2). Type III (WS3) shows mutations of the PAX3 gene also. SOX10, EDN3, or EDNRB gene mutations occur in type IV. Type IV (WS4) can also affect portions of nerve cell development that potentially can lead to intestinal issues. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Waardenburg syndrome」の詳細全文を読む スポンサード リンク
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