Understanding craniofacial anomalies

craniofacial kidsPerhaps you’ve met someone who had cleft lip surgery as a child. While cleft lip and cleft palate are the most common craniofacial anomalies seen at birth, there are many other types of deformities in the growth of the head and facial bones. These abnormalities are congenital, or present at birth, and there are numerous variations. Some are mild and some are severe and need surgery.

Children with craniofacial anomalies frequently have medical and social challenges above and beyond the physical deformity itself. Specialists at Driscoll Children’s Hospital Craniofacial and Cleft Center are trained to care for children with a wide variety of conditions affecting the appearance, growth and shape of the skull, face, ears and eyes.

What kind of medical providers treat craniofacial abnormalities?

The treatment of these disorders needs the involvement of experts from multiple medical and surgical specialties. Management of patients with craniofacial abnormalities is best provided by a multidisciplinary team of specialists. At Driscoll, the team’s areas of expertise include plastic surgery, orthodontics, neurosurgery, social work and more.

When should my child see a craniofacial team?

The optimal time for the first evaluation is within your child’s first few weeks of life. The focus of the team visit is to help correct your child’s physical problems and to ease adapting to each stage of life. Usually, your child will be seen at frequent intervals as an infant and then on an annual, or semiannual, basis thereafter.

The Driscoll Craniofacial and Cleft Center will schedule appointments at the earliest opportunity for patients referred by a private physician. The team will evaluate the patient and develop a comprehensive treatment plan, and a recommendation letter will be sent to the referring physician. The patient will remain under the primary care of the referring physician with visits to the clinic as needed.

What causes craniofacial anomalies?

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

Combination of genes. A child may receive a particular combination of gene(s) from one or both parents. Or, there may be a change in the genes at the time of conception. This results in a craniofacial anomaly.

Environmental. The effect of environmental exposures on the development of craniofacial abnormalities is not fully understood. However, environmental exposures may play a role, especially in combination with genetic abnormalities.

Folic acid deficiency. Folic acid is a B vitamin found in orange juice, fortified breakfast cereals, enriched grain products, and green, leafy vegetables. Studies have shown that women who do not take sufficient folic acid during pregnancy, or have a diet lacking in folic acid, may have a higher risk of having a baby with certain congenital anomalies. These include cleft lip and/or cleft palate.

What are the most common types of craniofacial anomalies?

Some of the most common types of craniofacial anomalies include the following:

Cleft lip or palate. A separation that happens in the lip or the palate (roof of the mouth), or both. Cleft lip and cleft palate are the most common congenital craniofacial anomalies seen at birth.

Cleft lip. An abnormality in which the lip does not completely form. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose).

Cleft palate. Happens when the roof of the mouth does not completely close, leaving an opening that can extend into the nasal cavity. The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). The cleft may also include the lip.

Craniosynostosis. A condition in which the sutures (soft spots) in the skull of an infant close too early. This causes problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance.

Hemifacial microsomia. A condition in which the tissues on one side of the face are underdeveloped. This mostly affects the ear (aural), mouth (oral), and jaw (mandibular) areas. Sometimes, both sides of the face can be affected and may involve the skull and the face. Hemifacial microsomia is also known as Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome, oculo-auriculo-vertebral spectrum, or lateral facial dysplasia.

Vascular malformation. A birthmark or growth, present at birth, that is composed of blood vessels. It can cause functional or aesthetic problems. Vascular malformations may involve multiple body systems. There are several different types of malformations and they are named according to which type of blood vessel is mostly affected. Vascular malformations are also known as lymphangiomas, arteriovenous malformations, and vascular gigantism.

Hemangioma. A hemangiomas is an abnormally growing blood vessel in the skin that may be present at birth (faint red mark) or appear in the first months after birth. A hemangioma is also known as a port wine stain, strawberry hemangioma, and salmon patch.

Deformational (or positional) plagiocephaly. A misshapen (asymmetrical) shape of the head from repeated pressure to the same area of the head. Plagiocephaly literally means “oblique head” (from the Greek “plagio” for oblique and “cephale” for head).