Clubfoot

Definition

Clubfoot is a condition in which one or both feet are twisted into an abnormal position at birth. The condition is also known as talipes.

Description

True clubfoot is characterized by abnormal bone formation in the foot. There are four variations of clubfoot, including talipes varus, talipes valgus, talipes equines, and talipes calcaneus. In talipes varus, the most common form of clubfoot, the foot generally turns inward so that the leg and foot look somewhat like the letter J. In talipes valgus, the foot rotates outward like the letter L. In talipes equinus, the foot points downward, similar to that of a toe dancer. In talipes calcaneus, the foot points upward, with the heel pointing down.

Clubfoot can affect one foot or both. Sometimes an infant's feet appear abnormal at birth because of the intrauterine position of the fetus birth. If there is no anatomic abnormality of the bone, this is not true clubfoot, and the problem can usually be corrected by applying special braces or casts to straighten the foot.

Genetic profile

Experts do not agree on the precise cause of clubfoot. The exact genetic mechanism of inheritance has been extensively investigated using family studies and other epidemiological methods. As of 1999, no definitive conclusions had been reached, although a Mendelian pattern of inheritance is suspected. This may be due to the interaction of several different inheritance patterns, different patterns of development appearing as the same condition, or a complex interaction between genetic and environmental factors. The MSX1 gene has been associated with clubfoot in animal studies. But, as of 2001, these findings have not been replicated in humans.

A family history of clubfoot has been reported in 24.4% of families in a single study. These findings suggest the potential role of one or more genes being responsible for clubfoot.

Several environmental causes have been proposed for clubfoot. Obstetricians feel that intrauterine crowding causes clubfoot. This theory is supported by a significantly higher incidence of clubfoot among twins compared to singleton births. Intrauterine exposure to the drug, misoprostol, has been linked with clubfoot. Misoprostol is commonly used when trying, usually unsuccessfully, to induce abortion in Brazil and in other countries in South and Central America. Researchers in Norway have reported that males who are in the printing trades have significantly more offspring with clubfoot than men in other occupations. For unknown reasons, amniocentesis, a prenatal test, has also been associated with clubfoot. The infants of mothers who smoke during pregnancy have a greater chance of being born with clubfoot than are offspring of women who do not smoke.

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Author Info: L. Fleming Fallon Jr., MD, DrPH, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002

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