A literature review of the causes of congenital limb deficiencies over the last 20 years

Introduction Despite the prevalence of congenital limb deficiencies (CLDs) occurring in around 7.9/10,000 births (Am J Med Genet A. 2011;155A:1225-1235), there is still a gap in the knowledge regarding the etiology of a large proportion of cases, and literature addressing this topic is sparser compared with other conditions. Objective The aim of this study is to assess the literature surrounding the causes of CLDs and use this to suggest the area in which a potential gap in the information on the causes of CLDs lies. Study Design This study is a literature review on articles published from the year 2000 onward. Methods A search was conducted on five databases (CINAHL, Scopus, PubMed, Embase, Cochrane Library) and the ProQuest platform resulting in 18 articles to be discussed, after inclusion and exclusion criteria were applied and critical appraisals were completed. Results and Discussion The main findings could be separated into four themes including genetics, environment, drugs, and vascular. Comparisons were made among similar literature, although within some topics, this was less effective, given the specificity and reduced volume of research. Positive correlations were seen in all studies; however, the biggest underlying factor for most causes seemed to originate from a vascular disruption. Conclusions Future studies should focus on an underlying vascular disruption as a base for further research to attempt to find reasoning for the proportion of CLDs with an unknown cause. Further attempts should be made into creating a consensus on classifying and recording CLDs to ensure a more uniform approach to this topic worldwide, allowing comparisons to be drawn more easily. Clinical Relevance Understanding relevant terminology is vital to ensure that families experiencing CLD receive accurate information about their child's condition. This understanding will also lead to improvements in the quality of recorded data, such as clinical notes and registry inputs.