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

Emma Shivers, Sarah Day

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Introduction -- Despite the prevalence of congenital limb deficiencies (CLDs) occurring in around 7.9/10,000 births (Gold NB, Westgate M-N, Holmes LB. Anatomic and etiological classification of congenital limb deficiencies. American journal of medical genetics Part A. 2011;155A(6):1225-35.), there is still a gap in the knowledge regarding the aetiology of a large proportion of cases and literature addressing this topic is more sparse compared to 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 -- A literature review on articles published from the year 2000 onwards. Methods -- A search was conducted on five databases (CINAHL, Scopus, PubMed, Embase, Cochrane Library) and the ProQuest platform resulting in 18 papers 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 between 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 appeared to originate from a vascular disruption. Conclusion -- 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.
Original languageEnglish
JournalJournal of Prosthetics and Orthotics
Early online date12 Aug 2022
Publication statusE-pub ahead of print - 12 Aug 2022


  • congenital deficiencies
  • upper limb prosthetics
  • lower limb prosthetics
  • genetics, population
  • congenital malformations
  • congenital
  • limb deficiency
  • etiology
  • upper limb


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