Craniofacial disorders (sometimes called craniofacial anomaly or difference) are a group of conditions, typically present at birth, that affect the face and head. These disorders can range from mild to severe, and can be distressing initially for parents and loved ones to see in their children.
Keep reading to learn more about craniofacial disorders and where you can find support and resources.
Types of Craniofacial Disorders
Certain craniofacial disorders are quite common, while others are considered extremely rare. Some of the most well-known craniofacial disorders include:
Cleft lip and palate: an opening in the roof of the mouth and/or lip
Craniosynostosis: premature closing of soft spots in an infant's skull
Hemifacial microsomia: bones on one side of the face are underdeveloped
Some conditions may be categorized as craniofacial disorders even though they do not directly involve the bones of the head and skull. These include:
Vascular malformations: birthmark or growth made up of blood vessels that may cause functional or cosmetic issues
Hemangioma: abnormally growing blood vessel in the skin present at birth or appearing within the first months after birth (aka port wine stain)
Another type of craniofacial disorder, called deformational plagiocephaly (positional skull deformity), leads to flattening on one side of the skull and a misshapen head due to repeated pressure on the same area of the infant's head. This can happen if a baby constantly sleeps in the same position or has trouble moving its head. Deformational plagiocephaly may be thought of as an acquired craniofacial disorder, because it develops after birth. It is different from craniosynostosis because the skull bones do not abnormally fuse together. Craniofacial disorders often co-occur in the setting of specific genetic conditions or syndromes, such as Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Pierre Robin syndrome, and Kleeblattschadel syndrome. Depending on the type and severity of a craniofacial disorder, an infant may experience complications associated with their disorder, ranging from breathing, speech, and eating problems to neurological issues due to impaired brain growth.
Why Do Craniofacial Disorders Occur?
Craniofacial disorders happen because bones inside an infant's face and/or skull fuse incorrectly or too early. Doctors and researchers are still learning about why this might happen, but some risk factors have been identified in the research, including: Maternal obesity during pregnancy
Maternal diabetes prior to pregnancy
Family history of craniofacial disorders
Inherited genes
Exposure to certain medications, alcohol, and/or cigarettes during pregnancy
Folic acid deficiency in pregnancy
Sometimes, craniofacial abnormalities can develop even without a clear cause.
Treatment Options for Craniofacial Disorders
Treatment for a craniofacial disorder is highly individualized and depends on factors like the severity of the deformity and whether a child has other complications or health conditions.
In cases where a craniofacial disorder significantly impacts a child's function, appearance, and/or quality of life, surgery may be recommended. Surgeries to correct craniofacial disorders are performed by highly trained specialists, including pediatric neurosurgeons and pediatric craniofacial plastic surgeons. These surgeries can be complex and require various hardware or implants to help stabilize, reshape, and protect a child's skull, facial bones, and brain.
Other types of craniofacial disorders may be treated with less invasive surgeries or non-invasive interventions, like the use of special helmets to help guide a child's skull bones as they grow.
Because infants' brains and skulls growly rapidly, it's best to seek professional help as soon as possible, if not immediately after birth. Early consultation with a medical team may help improve a child's outcomes and increase the availability of treatment options.
Does Your Child Have a Craniofacial Disorder?
Having a child with a craniofacial disorder can come with a lot of challenging experiences. If you're looking for support from parents who can relate to your experience, explore the many resources available at the Children's Craniofacial Association or reach out to other parents on our Healthread app. Sources