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Genetic Mutation Could Cause Club Foot
Club foot, in which the foot turns inward and downward, making walking difficult, is one of the most common severe musculoskeletal birth defects, with a worldwide incidence of one in 1,000 live births, according to the researchers.
The foot resembles the end of a golf club (hence its name). The most common form of clubfoot is known as 'equinovarus', clubfoot is also known as Talipes Equinovarus or Talipes.
About half of club foot cases affect both feet, including the bones, muscles, tendons and blood vessels.
If untreated, those affected walk on the outside of their feet, which can lead to long-term pain and disability. Treatments include the use of casts and splints, or surgery.
A family link plays a role in about 25 per cent of cases, the researchers say, but this is the first gene linked to the condition in humans.
"Club foot is a complex disorder, meaning that more than one gene as well as environmental factors will be discovered to play a role," said the study's senior author,
Dr. Matthew Dobbs, an orthopedic surgery professor at Washington University's school of medicine in St. Louis, Missouri.
"Identifying the genes for club foot will allow for improved genetic counselling and may potentially lead to new and improved treatment and preventive strategies for this disorder."
Genetic counselling involves informing parents about potential birth defects.
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More News on: Club Foot, Genetics and Stem Cells, Von Recklinghausen's Disease, Crigler-Najjar Syndrome
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