Types & Risk Factors
What is a Craniofacial Defect?
Craniofacial defects are a serious public health concern with more than 7,000 infants affected each year creating a significant concern for families and the healthcare system. Craniofacial defects are present at birth and affect the function of an infant’s head and face. Treatment for craniofacial defects vary based on a number of factors including severity, age, accompanying birth defects and/or syndromes, and additional needs. Infants with craniofacial defects can experience greater risk of learning, developmental, physical, and/or social challenges as they get older. There are four types of craniofacial defects: orofacial cleft, craniosynostosis, microtia, and anotia.
Types of Craniofacial Defects?
There are four types of craniofacial defects: orofacial cleft, craniosynostosis, microtia, and anotia.
• Orofacial cleft - One of the two most common types of craniofacial defects. This defect occurs when the mouth and lip do not form properly.
• Craniosynostosis – The other of the two most common types of craniofacial defects. This defect occurs when an infant’s skull fuse too early.
• Microtia – This defect occurs when the external portion of the ear does not form properly.
• Anotia – This defect occurs when the external portion of the ear does not form at all.
Risk Factors for Craniofacial Defects
The Centers for Disease Control and Prevention currently funds the National Birth Defects Prevention Study to aid in identifying risk factors and/or causes for developing craniofacial defects. To date, the following have been identified as risk factors:
• Maternal thyroid disease – Women who have thyroid disease or who have been treated for thyroid disease are at increased risk of having an infant with craniosynostosis.
• Diabetes – Women who have diabetes prior to becoming pregnant have an increased chance of having an infant with anotia, microtia, and/or cleft lip with or without cleft palate.
• Certain medications – Women who have used clomiphene citrate (fertility medication) prior to becoming pregnant or early in their pregnancy have an increased chance of having an infant with craniosynostosis.
• Smoking – Women who smoke one month before becoming pregnant through the end of the third month of pregnancy have an increased chance of having an infant with cleft lip with or without cleft palate.
Healthcare Provider Resources
• National Cleft & Craniofacial Awareness & Prevention Month
• Cleft Palate Foundation
• National Institute of Dental and Craniofacial Research
• American Cleft Palate – Craniofacial Association