Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)

摘要

BackgroundPolydactyly represents a heterogeneous group of congenital hand and foot anomalies with variable clinical features and diverse etiology. Preaxial polydactyly type I (PPD1) is the most frequent form of preaxial polydactyly. The etiology of sporadic PPD1 remains largely unknown and the relative contribution of genetic and environmental factors is not clearly defined. The primary goals of this study are twofold: (1) to examine the epidemiology and clinical features of sporadic PPD1 in comparison to a healthy control group, and (2) to contrast the characteristics of sporadic PPD1 with familial forms of isolated polydactyly.