Affecting more than 7,000 U.S. babies each year, cleft lip and/or cleft palate are the second most common birth defect, the cause of which continues to mystify scientists despite growing evidence of a complex interplay of genetic, environmental and lifestyle factors.
Barring ways to prevent these malformations in the first place, timely and appropriate treatment becomes critical, say experts from the Cleft & Craniofacial Clinic at Johns Hopkins Children's Center, which treats more than 650 cleft patients each year.
The key to such success, the experts say, lies in prenatal diagnosis, early surgery and a carefully synchronized treatment by a team of specialists.
"Prompt surgery and treatment by a multi-disciplinary team can ensure normal appearance and function for nearly all babies born with cleft lip or palate," says pediatric plastic and reconstructive surgeon Richard Redett, M.D., co-director of the cleft clinic at Hopkins Children's.
Prenatal ultrasounds can pick up the majority of cases.
Physicians should counsel parents on what to expect next as soon as the diagnosis is made and before the baby is born, Redett says. This will give parents time to prepare emotionally and allow physicians to devise an optimal treatment plan with the parents. Research has shown that early surgical repair ensures proper speech development. The optimal window for surgery is by 12 months of age, Redett says.
Early surgery provides a much-needed foundation for success, but it is not a silver bullet, he cautions. Post-surgical treatment is critical and should involve ear-nose-throat specialists, speech therapists, pediatric orthodontists and psychologists to best ensure a child's normal development.
Cleft lip and cleft palate occur in the first trimester of pregnancy when the roof of the mouth fails to fuse properly and can be caused by either inherited or new genetic mutations.
A 2010 study led by researchers at Johns Hopkins including Redett identified two genes that may be responsible for the development of oral clefts. Their work in this area continues.
Hopkins experts offer the following tips to help prevent oral clefts:
•Women planning to become pregnant should take 400 micrograms of folic acid each day. The supplement reduces the risk of neural tube defects like spina bifida, and researchers believe it may also help reduce the risk of other birth defects, including oral clefts.
•Pregnant women should not smoke and should avoid secondhand smoke.
•Pregnant women should tell their physicians about any prescription and over-the-counter medications they are taking because certain medicines can cause birth defects or increase the risk of birth defects.
•Discuss with your physician the need for a genetic workup if you have family members with cleft lip/cleft palate as these conditions tend to occur either as standalone disorders or as symptoms signaling a complex genetic syndrome that affects several organs
and systems.
One in 940 babies is born with cleft lip with or without cleft palate, and one in 1,500 is born with cleft palate, according to the latest estimates from the Centers for Disease Control and Prevention.
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