Hemifacial Microsomia

Overview

Hemifacial microsomia is a condition in which one side of the face is smaller or underdeveloped or has parts that are missing. While the hallmark is unevenness (asymmetry) of the face, one or both sides may be affected. It is the second most common facial birth defect after cleft lip and palate. It happens more often in males than in females.

The condition usually affects the lower part of the face and may include the cheekbone, lower jaw, facial nerves, muscles, and ear. However, sometimes it affects the eye and forehead. Some babies born with hemifacial microsomia have minor facial changes, while others may have more severe changes to the face. The condition may also cause dental and speech problems along with difficulties feeding or eating, breathing, seeing, and hearing.

Causes

Researchers do not know exactly why hemifacial microsomia happens. It is believed that poor blood flow to the baby’s developing face may be a cause. Experts also think that having diabetes, taking certain medications, smoking during pregnancy or being pregnant with more than one baby might play a role in developing hemifacial microsomia. Most of the time, hemifacial microsomia happens by chance, but there are some instances when it happens more than once in a family, leading doctors to believe it is sometimes inherited.

Symptoms

The signs and symptoms of hemifacial microsomia vary; however, most of the time, the ear and lower jaw are affected. See the chart below for possible signs and symptoms of hemifacial microsomia and the areas that can be affected by the condition.

Babies and children with hemifacial microsomia also may have medical problems involving the spine, ribs, heart, and kidneys that should be evaluated.

Diagnosis

Changes in the face can sometimes be seen in an ultrasound during pregnancy, and the physician may suspect hemifacial microsomia before birth. However, doctors usually diagnose hemifacial microsomia by examining the face after the baby is born. The doctor also may order x-rays and a CT scan to evaluate the bones, muscles, and tissue structures of your baby’s face.

The doctor may order genetic testing if there are others in the family with features of hemifacial microsomia, or if he or she wants to rule out other conditions that may be associated with some of the same symptoms.

Treatment

After diagnosis and testing, your child’s doctor may refer you to a craniofacial center for evaluation and treatment planning. These centers, which are usually part of children’s hospitals or university medical centers, have a team of health care professionals who will provide a complete treatment plan.

Treatment depends on your child’s symptoms and overall general health. When your child is an infant, treatment focuses on making sure your baby is breathing and feeding well. When your child is older, the goal is to improve the evenness of the face, jaw movement, and bite. You will work with your child’s doctors to develop a specific treatment plan, which may include surgeries to repair, rebuild, and expand the upper and lower jaws, improve the evenness of the face, or reconstruct or repair the ear.

In addition to surgeries, your child may need other treatments, such as a feeding tube to provide nutrition, speech therapy, dental care and orthodontia, or hearing and vision aids.

Treatment may occur over many years to adjust the shape of your child’s face and to help him/her breathe, eat, speak, and hear. Overall, the goal remains the same: to help your child develop and thrive.

Helpful Tips

• Before visiting a doctor, write down questions or topics you would like to discuss at the appointment.
• Ask your health care team questions and write down their answers. If you don’t understand something, ask them to explain.
• After each visit, write down any tests, treatments, or instructions you received. This can help you remember them and communicate with other members of your child’s health care team.
• Remember to take your child to the dentist for regular checkups. Discuss with the dentist the dental care and teeth cleaning routine your child should follow at home.
• Ask your physicians for community resources or support groups in your area for both you and your child.
• Ask for support from family and friends.

Additional Resources

• MedlinePlus - Genetic Conditions: Craniofacial microsomia
  This webpage from NIH’s MedlinePlus provides information about craniofacial microsomia, including hemifacial microsomia.
• FACES: The National Craniofacial Association
  This organization offers information on hemifacial microsomia and other craniofacial disorders, provides assistance in finding craniofacial treatment centers, and helps promote education about craniofacial disorders.
• Children’s Craniofacial Association
  This association helps address medical, financial, psychosocial, emotional, and educational concerns relating to craniofacial conditions.
• The American Cleft Palate-Craniofacial Association
  This association maintains a list of craniofacial health care teams across the United States.