Genetics And Cleft Lip/Palate

For children born with cleft lip, cleft palate or other craniofacial disorders the medical challenges they face can be numerous and life-long. They can lead to issues with speech, feeding, ear infections and hearing problems. Social and psychological challenges can be just as difficult as we continue to place value on people based on what they look like.

A child with a repaired cleft lip.

About 1 in 600 babies in the U.S. is born with a cleft lip and/or cleft palate according to the Cleft Palate Foundation.

Surgery to repair this issue is often done when the child is between 6 weeks and 9 month old. Depending on the severity more surgeries may be needed as the child grows and matures.

These birth defects result from a genetic mutation and environmental factors. Problems with genes passed down from one or both parents, drugs, viruses, or other toxins can all cause these birth defects.

A study published earlier this year explores the link between PRDM16, a protein contained within a specific gene, and the development of the embryonic palate. It’s also essential to muscle and bone development and the study is significant to understanding birth defects leading to facial clefts. Identifying the cellular and molecular processes regulated by PRDM16 is an important step toward understanding normal development of the face and head.

This study is encouraging and may lead to the introduction of gene therapy that might reduce or even eliminate the occurrences of cleft lip or palate. 

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