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Hay–Wells syndrome (also known as AEC syndrome; see ''Naming'') is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails. ==Genetics== Hay–Wells syndrome is autosomal dominant, caused by a missense mutation in the Sterile alpha motif (SAM) of the ''TP73L'' (p63) gene which encodes for a protein-protein interaction domain.〔 It is a very rare disorder. Hay–Wells syndrome is represents an autosomal dominant pattern of inheritance. The syndrome is thought to arise from a missense mutation in a gene pivotal for the proper development of craniofacial structures and extremities, as well as skin differentiation. Specifically, mutations within the Tumor Protein 63 gene have been implicated in Hay–Wells syndrome. Residing on the long-arm of chromosome 3, the Tumor Protein 63 (TP63) gene is critical for proper development and homeostasis of stratified epithelia. In Hay–Wells syndrome, and other ectodermal dysplasia disorders, a missense, nonsense, or insertion mutation has occurred in the TP63 gene. Currently, no deletion or duplication mutations have been detected in such disorders.〔 Interestingly, though ectodermal dysplasia disorders result from heterozygous mutations in TP63, compromised epidermal differentiation with epidermal decay is representative of Hay-Wells patients but is hardly observed in other syndromes. In contrast, severe abnormalities characteristic of other ectodermal dysplasia disorders (i.e. limb abnormalities in EEC) are not seen in Hay-Wells patients.〔 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「Hay–Wells syndrome」の詳細全文を読む スポンサード リンク
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