Interaction between genetics and environment in the development of clubfoot

Abstract

Idiopathic club foot or congenital talipes equinovarus (CTEV) is widely accepted as being of genetic origin; however, the genetic mechanism of inheritance is unclear. The situation is further complicated by the interaction of environmental factors and genetics in the development of the condition. This article reviews the evidence for a genetic etiology of CTEV and the environmental interactions that contribute. The mode of inheritance of CTEV has been extensively investigated using family studies and other epidemiological methods of investigation, but to date, no conclusive result has been reached. This may be due to a number of inheritance patterns being present, a number of different genotypes presenting as the same phenotype or complex gene–environment interactions taking place. Clubfoot or CTEV is the most common lower limb congenital deformity, and can be seen as a feature of some genetically inherited conditions, including diastrophic dwarfism and Freeman–Sheldon syndrome. Numerous neuromuscular and neurological disorders may also present with a clubfoot deformity, and spinal abnormalities should also be excluded in the child presenting with CTEV. This article, however, focuses purely on idiopathic congenital talipes; therefore, studies looking at syndromic cases are not included.