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Article Abstract

Background: Incidence and prevalence data for congenital upper extremity anomalies in the literature are scarce due to lack of reporting requirements, absence of a centralized database, and insufficient referral networks. As the state's only pediatric hospital and congenital hand clinic, the University of Mississippi Medical Center (UMMC) is uniquely positioned to report the per capita rate of congenital upper extremity anomalies.

Methods: Pediatric patients presenting from 2015 to 2020 were identified using International Classification of Diseases codes in the UMMC electronic medical record. Exclusion criteria included age older than 18 years at presentation and defects secondary to trauma. Diagnoses included polydactyly, syndactyly, reduction defects, club hand malformations, and syndromes with upper limb anomalies. Demographic data were collected including age, race, sex, maternal age, family history of extremity anomalies, geographic location, and insurance status. Geographic trends were identified, and results were presented in incidence of disease per 10,000 births.

Results: A total of 477 pediatric patients presented with a congenital upper extremity anomaly from 2015 to 2020. The average rate of congenital upper extremity anomalies in Mississippi was 21.5 per 10,000 births. The 3 most common upper extremity anomalies were polydactyly (13.1 per 10,000 births), congenital trigger thumb (2.67 per 10,000 births), and syndactyly (1.66 per 10,000 births). The polydactyly group was further divided into preaxial (1.98 per 10,000 births) and postaxial (10.9 per 10,000 births) polydactyly. There was a male predominance in presentation with 60.4% (n = 288) of patients being male.

Conclusions: In the past 5 years, only New York State has published similar findings delineating the incidence of congenital hand anomalies through their Birth Defect Registry. The prevalence of upper extremity defects presenting to UMMC from 2015 to 2020 was 21.5 per 10,000 births; however, 5 specific counties had a significantly higher prevalence, ranging from 53.65 to 63.97 per 10,000 births. To develop effective programs to comprehensively treat these pediatric patients, accurate reporting and data collection mechanisms are critical.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12132596PMC

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