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The present study was conducted to explore various aspects of Cornelia de Lange Syndrome (CdLS) research publications including annual scientific productivity, top contributing authors and their impact, top contributing countries and organizations, most relevant sources of publication, highly cited documents, and most frequently used words. Bibliometric methods were used to investigate these aspects of CdLS research publications. Results of the study disclosed that the annual scientific productivity of CdLS literature is increasing gradually with the passage of time. A. Selicorni contributed the highest number of publications (45) to CdLS literature while I. D. Krantz had the highest impact in the CdLS research field. The United States was the highest contributing country with 962 occurrences. The University of Birmingham was the highest contributing organizations with 144 documents. American Journal of Medical Genetics was the most relevant source of publication for Cornelia de Lange Syndrome research literature which published 63 documents. The most cited paper on CdLS was contributed by Krantz et al. in Nature Genetics, volume 36, number 6, 2004, which received the highest number of citations (491) at a rate of 28.88 citations per year. “de Lange Syndrome” was the most frequently used word having 1,332 occurrences followed by a human (857 occurrences) and female (751 occurrences). It is recommended that researchers should consider using multiple publications crediting methods while working on author productivity rankings. It is further recommended to explore different aspects of CdLS research literature that have not been covered in this study with different data sets.