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Hemifacial Microsomia

  • Overview

    Hemifacial microsomia (HFM) is a condition in which the tissue on one side of the face is underdeveloped. The deformity in hemifacial microsomia varies greatly in the degree of severity and in the area of the face involved.

    In the more severe cases, the following areas are underdeveloped:

    • the external and middle ear
    • the side of the skull
    • the thickness of the cheek tissue
    • the upper and lower jaws
    • the teeth
    • some of the nerves that allow facial movement

    In the milder forms, only some of these areas are affected and it's to a lesser degree.

    Why should my child see a craniofacial anomalies team?

    You may be feeling overwhelmed with your child's diagnosis of hemifacial microsomia. The Craniofacial Anomalies Program at Boston Children's Hospital can help. We've got a full team of specialists who are experts in treating HFM.

    • The craniofacial surgeon performs the jaw surgery and ear reconstruction.
    • The geneticist counsels you and your child about the recurrence risks of hemifacial microsomia.
    • The nurse coordinator acts as a liaison between your family and many specialists and assists in patient education.
    • The ophthalmologist evaluates your child's vision and eye movements.
    • The orthodontist follows the jaw growth and alignment of teeth to assist the surgeon in an optimal result of jaw surgery.
    • The otolaryngologist assesses your child's hearing abnormalities and coordinates middle ear surgery or hearing aids, if needed.
    • The speech therapist evaluates your child's speech development and coordinates speech therapy, if necessary.
    • The social worker assists you in obtaining resources and referrals in your community.

  • In-Depth

    What causes hemifacial microsomia?

    Hemifacial microsomia (HFM) usually occurs by chance. However, it's thought to be inherited in some families, because there have been many cases reported where the condition occurs more than once in a family.

    Observations made from families who have one child with HFM show that the overall chance for another child to be born with the condition 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, HFM is sometimes found in children with various types of chromosome abnormalities, which typically occur by chance.

    What are the symptoms of hemifacial microsomia?

    One of the most obvious problems your child may have 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.

    Other areas of your child's face that may be affected by hemifacial microsomia include the following:

    • Your child may have unequal cheek fullness because of the underdeveloped fat and muscle. Some parts of the face may not move normally, which may cause a "crooked" smile.
    • Your child may have a mildly misshapen ear or almost complete absence of the external ear (atresia). Small tags of skin may also be present in front of the ear(s).
    • Occasionally, the central nervous system is affected, causing parts of the face to not move symmetrically.
  • Tests

    How is hemifacial microsomia 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 by the doctor for accurate diagnosis.

  • How will my child's hemifacial microsomia be treated?

    Specific treatment for HFM is extremely variable because there are so many differences in the types of HFM. If a doctor suspects that your child has HFM, you make an appointment with 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:

    • For severe underdevelopment of the lower jaw, reconstruction using a bone graft taken from the ribs may be suggested.
    • Another possibility to lengthen the underdeveloped jaw would be to place a device on the jaw for bone distraction. This technique avoids the need for bone grafts.
    • The external ear is usually reconstructed between the ages of six to eight years. This is a multiple stage process with several months between each surgery.
    • Further surgery in the soft tissue of the cheek to increase symmetry, or possibly jaw surgery, may be needed when your child reaches adolescence.
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