Craniofacial Anomalies

Craniofacial anomalies are deformities that affect a child’s head and facial bones. These disorders are typically present at birth (congenital) and can range from mild to severe.

Common craniofacial anomalies include:

• Cleft lip and palate: a separation in the lip and the palate
• Craniosynostosis: premature closure of the soft spots in an infant’s skull
• Hemifacial microsomia: a condition in which the tissues on one side of the face are underdeveloped
• Vascular malformation: an abnormal growth composed of blood vessels
• Hemangioma: a benign tumor that causes a red birthmark

Symptoms of craniofacial anomalies vary by condition. Our doctors can help you understand your child’s symptoms.

Most medical professionals agree that there is no single cause of these types of abnormalities. Instead, many factors may contribute to their development, including the following:

• Genetics: Your child may have received a particular gene or combination of genes from one or both parents, or the genes may have changed at the time of conception. These situations can result in a craniofacial anomaly.
• Environmental: We don’t currently have data that shows a direct correlation between exposures to certain drugs or chemicals and craniofacial anomalies. However, your doctor may still ask you about any prenatal exposures to these substances.
• Folic acid deficiency: Folic acid is a B vitamin found in leafy green vegetables, orange juice, fortified breakfast cereals, and enriched grain products. Studies have shown that women who do not get sufficient folic acid during pregnancy may be at higher risk of having a baby with certain congenital anomalies, including cleft lip or cleft palate.

Your child’s doctor may diagnose a craniofacial anomaly at birth or during the first few months of life. Sometimes, these deformities can be identified before birth with a prenatal ultrasound.

Treatment for craniofacial anomalies depends on the individual condition. If your child’s deformity worsens or fails to improve after a trial of mechanical adjustments, you should consider contacting a pediatric neurosurgeon, a general neurosurgeon with expertise in pediatrics or a craniofacial surgeon or craniofacial anomalies team.

The Cleft and Craniofacial Center at Boston Children’s Hospital provides a team approach to the evaluation, diagnosis, and treatment of children and adults with craniofacial deformities. If your child has a craniofacial anomaly, our doctors can help. Each year, our specialists treat more than 500 patients, making our program one of the most experienced programs of its type in the country.