Understanding The Most Common Craniofacial Birth Defects

Learning that your child has a birth defect affecting the face or skull can feel overwhelming. Conditions such as cleft lip, cleft palate and craniosynostosis are among the most common craniofacial birth defects, affecting thousands of babies each year. While these diagnoses can raise concerns about a child’s appearance, development and long-term health, advances in surgical techniques and multidisciplinary care have dramatically improved outcomes.

What is cleft lip and cleft palate?

Cleft lip and cleft palate affect the development of a baby’s upper lip, palate (the roof of the mouth) or both, and they are among the most common birth defects. These conditions occur early in pregnancy when tissues that normally join together to form the face and mouth do not fully fuse.

“A cleft lip develops between the fourth and seventh weeks of pregnancy when the tissues that form the upper lip do not completely join,” said Anupamaa Srivastava-Sinha, MD, FAAP, a board-certified pediatrician at Penn Highlands Pediatrics. “The resulting opening can range from a small notch in the lip to a larger gap that extends into the nose. It may occur on one side of the lip, both sides or, rarely, in the center.”

A cleft palate occurs when the tissues that form the roof of the mouth fail to close completely between the sixth and ninth weeks of pregnancy. The opening may involve the hard palate (the bony front portion of the roof of the mouth), the soft palate (the back portion) or both.

Together, cleft lip and cleft palate are known as orofacial clefts. Because the lip and palate develop separately, a child can have a cleft lip without a cleft palate (about 1 in every 2,800 babies), a cleft palate without a cleft lip (about 1 in every 1,700 babies) or both conditions together (about 1 in every 1,600 babies).

In many cases, the exact cause of cleft lip and cleft palate is unknown. Researchers believe these conditions result from a combination of genetic and environmental factors that affect facial development early in pregnancy. A family history of cleft lip or cleft palate can also increase the likelihood that a baby will be born with the condition.

Without treatment, cleft lip and cleft palate can lead to challenges with feeding, speech development, hearing and dental health. Fortunately, advances in care allow most children to achieve excellent outcomes. Treatment typically includes surgery during infancy, along with ongoing support from specialists such as speech therapists, dentists and orthodontists.

What is craniosynostosis?

Craniosynostosis is a birth defect that occurs when one or more of the flexible joints between the bones of a baby’s skull, called sutures, close too early. Normally, a newborn’s skull is made up of several bony plates connected by these sutures, which allow the skull to expand as the brain grows during infancy and early childhood. Most sutures do not fully close until around 2 to 3 years of age.

“When a suture closes prematurely, the skull can no longer grow in that area,” said Dr. Srivastava-Sinha. “As the brain continues to develop, growth is redirected to other parts of the skull where the sutures remain open. This often results in an unusually shaped head. It most commonly affects a single suture, but in some cases multiple sutures close too early.”

Craniosynostosis affects about 1 in every 2,500 babies in the United States. The severity of the condition depends on which sutures are involved, how early they close and whether there is enough room for the brain to grow normally. While many children experience only changes in head shape, more severe cases can increase pressure inside the skull.

Like cleft lips and cleft palates, the cause of craniosynostosis is usually unknown. In some children, it may be caused by a change in a single gene. Other possible factors include abnormal development of the skull and surrounding tissues or pressure on the baby’s head before birth.

If left untreated, increased pressure can interfere with normal brain development and may lead to complications such as vision problems, seizures or developmental delays. Early diagnosis and treatment can help prevent these issues. Surgery is often used to reshape the skull and create adequate space for the growing brain. With timely treatment, most children go on to develop normally and achieve a more typical head and facial shape.

From treatment and support services for cleft palates to routine back-to-school physicals, Penn Highlands Healthcare provides comprehensive pediatric care throughout Pennsylvania. Learn more at www.phhealthcare.org/pediatrics.