International Conference for Ectodermal Dysplasias Classification

描述（由申请人提供）：外胚层发育不良是一组以胚胎外胚层异常为特征的遗传性疾病。对于哪些证候应归类为外胚层发育不良，哪些应排除在外胚层发育不良存在争议。Freire-Maia提出了第一个外胚层发育不良bbb的临床分类。他根据观察到的主要影响头发、牙齿、汗孔和指甲的临床表型进行分类。根据这个分类有

DESCRIPTION (provided by applicant): Ectodermal dysplasias are a heterogeneous group of heritable disorders characterized by abnormalities of the embryonic ectoderm. Controversy exists over which syndromes should be classified as ectodermal dysplasias and which should be excluded from the classification. Freire-Maia offered the first clinical classification of ectodermal dysplasias [1]. He based his classification on the observed clinical phenotype affecting mainly the hair, teeth, sweat pores and nails. According to this classification there are over 170 conditions that could be considered an ectodermal dysplasias. With the rapid advancement in the study of the human genome, new approaches for classifications for ectodermal dysplasias have been proposed. Priolo [2] proposed a classification integrating molecular genetics and clinical aspects. However, Priolo's classification, as well as that of Freire-Maia, has the complication that when applied strictly several additional groups of diseases should be included under the term ectodermal dysplasias. Lamartine [3] has proposed a classification based on causative genes function. This classification considered four subgroups: cell-cell communication and signalling, adhesion, transcription regulations, and development. The study of the human genome has accelerated the knowledge of cell function, making this an appropriate time to host an international conference of experts to update, transfer, and disseminate a new classification for ectodermal dysplasias. The conference proposal aims to generate a consensus to develop a modern classification for ED due in part to the recent advances in molecular genetics. The clinical and molecular knowledge will be integrated by using an interactive internet based database that can be accessed by clinicians and scientists. This can be accomplished using a multi-axis system approach to include a Clinical/ Phenotype axis, a Gene based axis, and a Functional/ Pathways axis. The significance of the conference results are two-fold, a new classification will foster a better understanding of ectodermal dysplasias and will also open up new fields of research. This approach may also end up serving as a model for the classification of other complex disorders. PUBLIC HEALTH RELEVANCE: The study of the human genome has accelerated the knowledge of gene identification and function making this an appropriate time to host an international conference of experts to review, update, transfer, and disseminate a modern classification for ectodermal dysplasias. The conference proposal aims to analyze present classifications in order to generate a consensus to develop a new modern classification system, due in part to the recent advances resulting from the integration of molecular genetics and clinical knowledge. The significance of the conference results are two-fold. Foremost, a new classification which will foster a better understanding of ectodermal dysplasias and result in a better diagnosis, treatment approach and genetic counseling. Secondly, the conference will foster further interest in not only this area of research but potentially serve as a model for othe complex disorders as well.