Craniofacial Microsomia

What is Craniofacial Microsomia?

Craniofacial Microsomia, aka hemifacial microsomia or Goldenhar syndrome, is a birth defect that describes an abnormality in the development of the skull and face before birth. 

Most children with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry).  In some cases, both sides of the face have abnormalities, which typically differ from one side to the other.

Children with craniofacial microsomia usually have ear abnormalities affecting one or both early, typically to different degrees.  Eye problems may occur, but are less common in craniofacial microsomia, and may result in vision loss. There can also be differences in the size of the lower jaw (mandible), sometimes associated with airway obstruction or causing problems chewing.

How common is craniofacial microsomia?

Craniofacial microsomia is the second most common facial birth defect after clefts, occurring in one in 3,500-4,500 infants. 

Symptoms

Some children will have a slightly smaller jaw with a tiny raised piece of skin (skin tag) in front of the ear. It is also common for babies to have just one side of the face that is affected. The ear may be abnormally shaped or missing entirely.  Screening is recommended for other anomalies that are sometimes present in the heart, kidneys, and spine.

 

Common features include:

  • Small ear
  • No ear canal
  • Facial tags
  • Other ear deformities
  • Facial palsy
  • Small cheekbone
  • Epibulbar dermoid (pinkish-white growth on the eye)
  • Wide mouth
  • Cleft lip and palate
  • Small opening of the mouth
  • Small lower jaw
  • Crooked lower jaw

Treatment of Craniofacial Microsomia

Our craniofacial team will determine the proper treatments and timing of the treatments to provide the best results for your child. Below are some examples of treatments that may be suggested.

Ears

Surgery to correct the shape of your child's ears is usually recommended between 6 and 8 years of age. By this time, your child's ears have almost reached their adult size. There are a variety of different techniques that are used to accomplish this and the craniofacial surgeon will discuss the options with you to choose the best method for your child.

Face

In cases where the cheekbones are underdeveloped a grafting procedure may be required. A variety of techniques may be employed to accomplish this goal. Autologous (patient's own) tissue or alloplastic (synthetic) implants may be used depending on the situation. Timing of facial grafting depends on many factors and is usually performed around 10 years of age.

Feeding and breathing

In severe cases, a small jaw or a cleft palate associated with craniofacial microsomia may cause difficulty breathing and feeding as an infant. Breathing problems may be resolved with positioning, tubes and jaw advancement procedures. In rare cases, it may be necessary to place a breathing tube in the windpipe known as a tracheostomy.

Hearing

We recommend a hearing screening within the first few days of birth. If hearing is impaired, our ear, nose and throat specialist and audiologist will discuss how to minimize hearing impairment and prevent further loss.

Jaw and teeth

If your child has a small lower jaw, a procedure called distraction osteogenesis may be recommended. This surgery involves making a break on both sides of the lower jaw and then placing a small metal distraction device under the skin and across the breaks, also called the osteotomy. Then gradually, the device is used to slowly open the osteotomy gap and move the jaw forward. As the jaw moves forward, the tongue also moves forward, which open's your baby's airway.

Your child also may have missing teeth. If this is the case, we may recommend that a dentist or orthodontist evaluate your child's teeth and the upper and lower jaw to determine how well the jaws fit together.