(WECT) - One in every 1,000 babies is born with clubfoot, which is a common deformity that causes feet to turn in and sometimes makes it impossible to walk.
Without treatment, a child with clubfoot would lose much of their ability to function, but treatment can give a child nearly a normal foot.
Treatment is about to get better because researchers at St. Louis Children's Hospital have pinpointed a genetic link to clubfoot in humans.
"We're able to find a new gene that's never been implicated in human disease before," said Dr. Matthew Dobbs. "When you make mutations of this gene, you alter the way the foot forms."
Out of 25,000 genes in the human body, the discovery of Pit-X-1 could possibly eliminate clubfoot.
"Figuring out the cause is the first step to bettering treatment options and working on preventative strategies," said Dr. Dobbs.
Cases of clubfoot used to be corrected with casts that slowly straighten out the legs, but Dr. Dobbins has developed a new brace that allows more movement.
Clubfoot occurs twice as often in boys and happens more often in the right foot. About half of clubfoot cases affect both feet, including bones, muscles, and ligaments.
For more information, please contact:
Washington University School of Medicine
St. Louis, MO
BACKGROUND: According to the American Academy of Orthopaedic Surgeons, clubfoot is one of the most common birth defects, affecting about one in every 1,000 babies. Boys are slightly more affected by the condition than girls. Clubfoot is immediately distinguishable at birth because the foot is turned to the side and it may look as if the top of the foot is where the bottom should be. Some parents find out their child has the condition before they're born, during an ultrasound. Clubfoot can affect one or both feet. It is not painful but if left untreated, it can cause discomfort and disability as that child ages.
TREATMENT: Without treatment, a child with clubfoot would lose much of their ability to function, but treatment can give a child a nearly normal foot that allows them to run, jump and play. Treatment for clubfoot can be both surgical and nonsurgical. Nonsurgical treatment should start as soon as possible in order to give the child the best possible outcome and to potentially avoid surgery. The Ponseti method is often used to correct clubfeet. It involves a stretching and casting approach in which the doctor changes a cast every week for several weeks, moving the foot towards the correct alignment a little more every time. The heel cord is then released and a cast is put back on for several more weeks. The infant is then required to wear a brace at night for two years to maintain the new structure. Parents must be very involved in this type of treatment, ensuring their child is wearing their brace diligently. If not, clubfoot will almost always recur due to the muscles around the foot pulling it back into its former position.
If the former method is not effective, a baby may require surgery to correct their clubfoot. Surgery is performed to adjust the tendons, ligaments and joints in the foot and ankle and is usually done between ages the ages of nine and 12 months. A cast is put on the foot after surgery to maintain the new position as it heals. Recurrence with surgery is still possible, which is why special shoes or braces are often used for up to a year or more following the procedure. The surgical method often causes the foot to be less agile than the nonsurgical treatment, especially years after its done. Corrected clubfoots are usually one to a half size smaller than the normal foot and the calf muscles in the clubfoot leg are also typically smaller.
A NEW DISCOVERY: Researchers at Washington University School of Medicine in St. Louis have found the first genetic link to clubfoot in humans. A mutation in the gene PITX1, critical for early development of lower limbs, may be to blame. Experts say other genes play a role as well, but it's a step towards improving genetic counseling and creating new therapies for the condition. The gene was found by examining the DNA of 35 extended family members of an infant male patient with clubfoot. Thirteen of them were affected by the condition. Five additional family members had clubfoot and five others had lower limb abnormalities including flatfoot, an underdeveloped patella and hip dysplasia.