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In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS). This rare disorder is characterized by specific skin anomalies involving the neck and behind the ear, eye abnormalities, a typical facial appearance, and frequently cleft lip and palate.

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Research by Dr. Damir Matic, a scientist with Lawson Health Research Institute in London, Ontario is changing the way cleft palate surgeries are performed throughout North America and around the world. Matic has been conducting research to determine the optimal time to close the gum tissue of cleft palate patients. His research suggests that it is best to wait until the child is older.

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Founded 25 years ago by plastic surgeons, Operation Smile has treated more than 100,000 children with cleft lip and cleft palates throughout the world demonstrating that no other specialty can approach what plastic surgery does in reconstructing patients, restoring dignity and changing lives. [click link for full article]

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A surgical team that traveled to Zimbabwe successfully treated 39 children with cleft lip or palate, and an ongoing relationship with physicians there will help meet the needs of local patients, according to an article that will appear in the November/December 2007 print issue of Archives of Facial Plastic Surgery one of the JAMA/Archives journals. Annette M. Pham, M.D., and Travis T. Tollefson, M.D. [click link for full article]

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Researchers supported by the National Institutes of Health report in the current issue of the journal Science that a much-studied gene called SUMO1, when under expressed, can cause cleft lip and palate, one of the world’s most common birth defects.With several genes already implicated in causing cleft lip and palate, the authors note their addition to the list comes with a unique biological twist. [click link for full article]

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An international team of researchers has identified a gene variant that is a major contributor to oral clefts and triples the risk of recurrence in affected families, it was reported today in The New England Journal of Medicine. “Cleft lip and cleft palate are among the most common birth defects in the United States,” says Nancy S. Green, M.D., medical director of the March of Dimes, which helped fund the study. [click link for full article]

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Cranio-maxillofacial surgery is a medical specialty focusing on facial and skull reconstruction. This surgery can help patients with such disorders as cleft palate, malformations of the upper or lower jaw, and problems with the facial skeleton due to injury. Intensive pre-operative planning is needed not only to ensure that the medical purposes of the surgery are achieved, but also to give patients a sense of what their faces will look like after the surgery is performed. [click link for full article]

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Pioneering new research into cleft lip and palate could open the door to babies with certain craniofacial disorders being successfully treated in the womb.University of Manchester researchers have uncovered the causes behind two genetic conditions that lead to facial anomalies including clefts, where the lip and often the roof of the mouth, or palate, fail to form properly. [click link for full article]

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Results from a Mayo Clinic laboratory study in animals suggest that using distraction osteogenesis, a procedure that uses the mechanical force of an appliance to lengthen soft tissue and bone, may be a feasible and effective method to repair cleft palate in the future. Cleft palate is a common birth defect in which a child is born with a gap in the roof of the mouth. This condition occurs in one out of 700 to 1,000 births in the United States. [click link for full article]

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Mice engineered to have cleft palates can be rescued in utero by injecting the mothers with a small molecule to correct the defect, say scientists at the Stanford University School of Medicine and Lucile Packard Children’s Hospital. In addition to shedding light on the biology of cleft palate, the research raises hopes that it may one day be possible to prevent many types of human birth defects by using a similar vaccination-type technique in pregnant women likely to have affected fetuses. [click link for full article]

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