該雜志將發(fā)表多種先天性異常綜合征的報告和關(guān)于先天缺陷的病因?qū)W、臨床描述、遺傳圖譜和分子胚胎學的原始研究和綜述文章。《華爾街日報》認為:綜述了病因?qū)W、證候分類、異質(zhì)性、自然歷史和成體表型。原來的文章。這些可以是三種類型:a)綜合征報告-這些應該包括幾個病例或整個家庭，包括詳細的臨床報告，適當?shù)臏y量和調(diào)查結(jié)果。個案報告應采用簡短的報告格式;b)分子遺傳學主題;c)細胞遺傳異常。簡短的案例報告。這些報告應該包括一個關(guān)鍵特性列表、摘要、帶有相關(guān)圖片和表格的調(diào)查、一個簡短的討論和參考文獻。可以按照本文的類型提交簡要的或單個的案例報告。通訊:與以前發(fā)表的論文有關(guān)。會議報告及摘要。提交的文章要經(jīng)過編輯的初步審查。有些文章可能不經(jīng)進一步考慮就退回作者。那些被考慮出版的將由編輯進行進一步的評估和同行評審，那些被邀請出版的將由董事會和評審團進行評審。

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.