What is hemifacial microsomia (HFM)?
Hemifacial microsomia (HFM) is a condition in which the tissue on one side of the face is underdeveloped, affecting primarily the aural (ear), oral (mouth), and mandibular (jaw) areas. Sometimes, both sides of the face can be affected and may involve the skull, as well as the face.
Hemifacial microsomia is also known as Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome (FAV), oculo-auriculo-vertebral spectrum (OAV), or lateral facial dysplasia.
What are the different types of HFM?
The deformity in hemifacial microsomia varies greatly in the degree of severity and in the area of the face involved. The disorder varies from mild to severe. In the more severe cases, the following structures are underdeveloped:
In the milder forms, only some of the structures are affected and to a lesser degree.
What causes hemifacial microsomia?
Hemifacial microsomia usually occurs sporadically (occurs by chance), but is thought to be inherited in some families. This is because of the many familial (cases occurring more than once in a family) cases reported. The following patterns of inheritance have been observed:
Observations made from families who have one child with hemifacial microsomia show that the overall chance for another child to be born with hemifacial microsomia is about 2 to 3 percent. Parents and other family members should have a thorough evaluation to help give more definite recurrence information. In addition, hemifacial microsomia is sometimes found in children with various types of chromosome abnormalities. Chromosomes are the structures in our cells that carry our genes. Genes determine traits such as blood type and eye color. Chromosome abnormalities are usually sporadic (occur by chance).
Which parts of the facial bone are involved?
One of the most obvious problems in hemifacial microsomia is the underdevelopment of the upper and lower jaws on the affected side. It may appear that your child's mouth slants upward toward the involved side. Often the forehead and cheek are flattened on the affected side with one orbit (eye socket) smaller than normal.
What other areas of the face are affected?
Other areas of your child's face that may be affected by hemifacial microsomia include the following:
How is HFM diagnosed?
HFM is typically diagnosed after a comprehensive medical history and physical examination by a geneticist. There is not a blood test to diagnose HFM. Because the spectrum of severity is so wide, the diagnosis should come from an experienced geneticist skilled in diagnosing craniofacial anomalies. CT scans and x-rays of the face may also be ordered for accurate diagnosis.
Diagnostic tests that may be performed to confirm the diagnosis of hemifacial microsomia include:
Treatment for HFM:
Specific treatment for HFM is extremely variable because there are so many differences in the types of HFM. Any child with suspected HFM should be evaluated by a craniofacial anomalies team. Each of the specialists will have a proposed treatment plan depending on the severity of your child's specific physical findings.
After a diagnostic evaluation and meeting with a craniofacial team, the following treatment options may be discussed:
Why should my child be seen by a CFA team?
Because hemifacial microsomia involves so many areas of the body, many specialists are required, including the following:
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