该杂志将发表多种先天性异常综合征的报告和关于先天缺陷的病因学、临床描述、遗传图谱和分子胚胎学的原始研究和综述文章。《华尔街日报》认为:综述了病因学、证候分类、异质性、自然历史和成体表型。原来的文章。这些可以是三种类型:a)综合征报告-这些应该包括几个病例或整个家庭，包括详细的临床报告，适当的测量和调查结果。个案报告应采用简短的报告格式;b)分子遗传学主题;c)细胞遗传异常。简短的案例报告。这些报告应该包括一个关键特性列表、摘要、带有相关图片和表格的调查、一个简短的讨论和参考文献。可以按照本文的类型提交简要的或单个的案例报告。通讯:与以前发表的论文有关。会议报告及摘要。提交的文章要经过编辑的初步审查。有些文章可能不经进一步考虑就退回作者。那些被考虑出版的将由编辑进行进一步的评估和同行评审，那些被邀请出版的将由董事会和评审团进行评审。
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The Journal will publish reports of multiple congenital anomaly syndromes and original studies and review articles on the aetiology, clinical delineation, genetic mapping and molecular embryology of birth defects. The Journal considers the following:Reviews that discuss aetiology, syndrome classification, heterogeneity, natural history and adult phenotypes.Original Articles. These can be of three types: a) syndrome reports - these should include several cases or a whole family and include detailed clinical reports, appropriate measurements and results of investigations. Reports of single cases should go in the short report format; b) on molecular genetic topics; c) on cytogenetic aberrations.Short case reports. These reports should include a list of key features, summary, investigations with relevant images and tables, a brief discussion, and references. Brief or single case reports can be submitted as this article type.Correspondence: relating to previously published papers.Conference/meeting reports and abstracts.Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors without further consideration. Those being considered for publication will undergo further assessment and peer-review by the editor and those invited to do so from the board and reviewer pool.
