Etiopathogenesis of equinovarus foot malformations

Congenital talipes equinovarus (CTEV) is the most common musculoskeletal birth defect affecting approximately 1/700-1/1000 of liveborns. Even though extensive epidemiological and genetic studies have been carried out to address its causes, the precise mechanisms leading to this common birth defect remain elusive. CTEV is a multifactorial disorder, hence the combination of genetic and environmental factors are known contributors to this developmental abnormality. So far a handful of genes involved in limb patterning like PITX1, HOXA, HOXD, TBX4, and RBM10, as well as genes involved in muscle contraction, have been identified as possible players. Among many environmental factors investigated, maternal smoking seems to hold the strongest consistent association with this disorder. This article will review and discuss some of the most common genetic and environmental factors associated with the etiopathogenesis of CTEV.