Hemifacial Microsomia

What Is A Hemifacial Microsomia?

When your baby is born with a facial birth defect, it can be troubling for you as parents, especially in cases when there is no genetic predisposition.

The term hemifacial microsomia means that half of the face is underdeveloped or abnormally small. It is a congenital disorder, or birth defect, which affects a child’s lower half of the face, including the ears, mouth, and lower jaw. The most obvious sign is a partially formed ear or the complete absence of an ear, though only sometimes is hearing defective. Your child’s lower jaw can also be underdeveloped or even missing. Although it is generally known to only affect one half of the face, it can occur on both sides. In more severe cases, hemifacial microsomia can obstruct the windpipe, making it difficult to breathe.  

If your child has been diagnosed with Goldenhar syndrome, the eyes, rather than the ears, are the most common facial feature affected. Your child may have a small eye socket with a small, non-seeing eye or possibly no eye. You may notice notches in the eyelid, which are called epibulbar dermoids. Goldenhar syndrome may also include a fusion or bony bridge between the bones of the neck.

The degree of deformity in children with hemifacial microsomia varies from mild to severe. This condition is the second most common facial birth defect, occurring in every 3,500 to 4,500 births.

Our craniofacial team includes internationally renowned surgeons and 18 clinical specialists, all who are dedicated to helping families with children affected by head and neck birth defects. Our goal is to provide your child with the best possible comprehensive treatment by using the latest technology and time-honored, heart-felt care.

Causes of Hemifacial Microsomia

Because hemifacial microsomia is a birth defect that has no family history, you may wonder if there was something you could have done to prevent the deformity. Researchers are not certain what causes the defect, but there has been no link between hemifacial microsomia and anything the mother might have done or not done during pregnancy.

Researchers believe hemifacial microsomia is most likely due to a disturbance in the blood supply to the embryo’s face in the first trimester of pregnancy. The earlier the injury to the fetus, the greater the chance of extensive problems.

It is natural to wonder if you will have another child with hemifacial microsomia. Having one child with hemifacial microsomia does not mean that you will have another child with the same defect. In fact, your chances are only between 0 and 1 percent.

It is also natural to wonder if your child will have children with hemifacial microsomia. Adults with this condition have only a 3 percent chance of having children with hemifacial microsomia. 

Features of Hemifacial Microsomia

Your child may have all or some of the following features of hemifacial microsomia: 
  • Partially formed ear
  • Absence of an ear
  • Defective hearing
  • Flattened forehead 
  • Eye might be pulled downward
  • Underdeveloped lower jaw
  • Small eye socket
  • Small or non-seeing eye
  • Growths or notches on the eyelid
  • Fusion or bony bridge between the neck bones
  • Weakened movement on the affected side of the face
  • Neck problems in cases of Goldenhar syndrome
  • Skin tags on the ears and other parts of the face
The microsomia may affect one or both sides of the face.

This list should be used as a guideline. Not every feature is included. If your child has one or more of these features, it does not mean that he or she has hemifacial microsomia. If you are concerned that your child might have hemifacial microsomia, please make an appointment with your child's doctor for an initial evaluation.

Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development.

Treatments for Hemifacial Microsomia

Hemifacial microsomia is a complex, three-dimensional deformity requiring interdisciplinary treatment. The Yale Craniofacial Program offers a comprehensive team with specialists from 18 clinical services, including some of the top researchers and surgeons in the country. Together, we provide the most advanced treatments and long-term care available for your child.

Actual treatment for hemifacial microsomia is determined by the specific craniofacial abnormalities of each child.

Often treatment includes:
  • Plastic surgery: to repair ear and facial malformations
  • Craniofacial surgery: to create improved facial symmetry, to realign the lower and upper jaw, to establish normal joint function, to add soft tissue where needed 
  • Oral surgery: to align the teeth of the upper and lower jaws
If your child’s hearing is impaired, we will evaluate the extent of loss and provide appropriate treatment. 

Ear reconstruction generally begins at about five to six years of age and involves three to four surgeries.

During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
  • Simulate the outcome of proposed surgical plans and adjust any discrepancies before surgery
  • Follow and monitor your child’s condition during the post-surgical healing process
  • Monitor your child’s long-term development
We know how difficult it can be to have a child go through the surgical process, and you probably have many questions regarding the procedure and recovery. That is why our team develops a detailed surgical plan for your child. We go over each section with you so that you thoroughly understand your child’s surgeries and treatments and what you can expect.