Hand and Upper Limb Malformations in Italy: A Multicentric Study

Background: Although hand and upper limb malformations are quite frequent, up to now very few reports have been published on epidemiology. The aim of this study is to evaluate the number of infants who presented with hand and upper limb malformations from 2010 to 2015 in Italy. Methods: A retrospective analysis of a pediatric population presenting with hand and upper extremity malformations was carried out, gathering reports achieved from eight Italian Centers of pediatric hand surgery. Other factors such as gender, date and region of birth, family distribution of malformations and associated syndromes, were analysed. Results: Out of 3,100,421 live births, 765 children presented with hand and upper limb malformations. The incidence was 2,5/10,000 live births with a predominance of males and the right side. Radial polydactyly was the anomaly with the highest percentage, closely followed by simple syndactyly, simbrachidactyly and complex syndactyly. Less common conditions were the triphalangic thumb, thumb in palm, proximal radioulnar synostosis and Sprengel deformity. Inheritance of and familial predisposition to those malformations was recorded in 25 cases, while 84 children presented with syndromes related to hand anomalies. Conclusions: In conclusion the incidence of hand and upper extremity malformations in Italy is lower than that registered in other countries. The retrospective nature of the study combined with the fact that some defects frequently evade pediatric hand surgeon consultations are some possible limitations of the study. However, our data confirmed that, in spite of the decrease in the birth rate in Italy, the trend of congenital hand disorders maintained a stable trend. We aim to integrate this study with a prospective analysis and to involve the institutional health authorities in other countries so as to register the correct incidence of hand and upper extremity defects.