At OHSU Doernbecher Children’s Hospital, our team works together to treat craniofacial microsomia.
- We are one of few medical centers in Oregon to treat this condition, which often involves advanced reconstructive surgery and other specialized techniques.
- Our craniofacial team helps you find speech, hearing, orthodontic and counseling services for your child at OHSU or closer to home.
- We are active partners in your child’s care as they grow, often into early adulthood.
Understanding craniofacial microsomia
Craniofacial microsomia is a group of rare conditions that cause differences in the size and shape of facial features. The word microsomia means unusually small body part. Craniofacial refers to the skull (cranium) and the face.
Symptoms vary, but children with craniofacial microsomia often have small jaws and unusually shaped ears.
What is craniofacial microsomia?
Craniofacial microsomia occurs when the lower jaw and ear develop differently before birth. Early in pregnancy, your developing baby has structures called pharyngeal arches. Later, these arches will shape the bones of their jaw and ear. They also contain the nerves and muscles used for chewing and to make facial expressions.
About two-thirds of children with craniofacial microsomia have facial features that look different on one side than the other. Some have small eyes or eye conditions that cause vision problems. Some have problems with their spine, kidneys, or heart.
Hemifacial microsomia: This is the most common type. Hemifacial means that the condition affects only one side of the face.
Goldenhar syndrome: This type also affects the development of the eyes. It can cause growths in the eye called epibulbar dermoids.
Who gets craniofacial microsomia?
Craniofacial microsomia affects 1 in every 3,500 to 4,000 births. It is more common in boys than girls. Parents who have a child with this condition have a slightly higher chance (2% to 3%) of having another child with similar facial differences.
Craniofacial microsomia is the second most common facial birth defect, after cleft lip and palate. In mild cases, it may not be diagnosed right away or may be mistaken for a different craniofacial condition.
What causes craniofacial microsomia?
Researchers suspect that craniofacial microsomia is linked to a development problem early in pregnancy, at about 6 to 8 weeks.
The problem may be a difference in the chromosomes that house a child’s DNA or, in rare cases, an inherited genetic change.
Studies of craniofacial microsomia suggest some possible environmental risk factors, according to the National institutes of Health. These include:
- Using certain medications early in pregnancy
- Isotretinoin (Accutane), an acne medication
- Cold medicine containing pseudoephedrine
- Pain relievers like aspirin or ibuprofen
- Second trimester bleeding
- Pregnant parent has diabetes
- A multiple birth pregnancy
- Use of certain fertility treatments
Symptoms of craniofacial microsomia
Symptoms range from mild to severe. Signs of the condition may include:
- Differences in facial appearance from one side to the other
- Difficulty with facial muscle movement
- Small or missing ears or ear canal
- Hearing loss
- Small cheekbones
- Wide mouth
- Cleft lip and/or cleft palate
- Tags of skin in front of the ear or on the face
- Pinkish-white growth on the eye
- Small, unusually shaped eyes
- Limited opening of the mouth
- Short or crooked lower jaw
- Teeth that don’t fit together well
Diagnosing craniofacial microsomia
Doctors can sometimes diagnose craniofacial microsomia before birth if they can see unusual features on a prenatal ultrasound. It is usually diagnosed after your child’s birth.
To diagnose the condition we may use:
- Imaging, like X-rays and CT scans to look at your child’s bones and cartilage.
- Genetic tests to rule out or diagnose related conditions.
Treatment for craniofacial microsomia
Our team will work with you to develop the right treatment plan for your child’s unique needs. Surgery and other treatments for your child’s speech, hearing, or facial appearance may continue for years. Our specialists work together to care for your child and support you to manage their condition.
Treatment may include:
Most children with craniofacial microsomia have some form of hearing loss. Right after birth, your baby will be screened for hearing issues. Our team may conduct other tests to help us plan treatments to improve hearing or reduce hearing loss.
Children with craniofacial microsomia may also develop velopharyngeal dysfunction (VPD). This occurs when changes in the throat and roof of the mouth let air escape through the nose, leading to speech problems. For children with VPD, we may recommend a speech appliance or surgery.
Our speech therapists will evaluate your child every year up to age 6. They will test for language disorders, including voice quality and trouble articulating words. If we recommend ongoing speech therapy, we will connect you with speech specialists in your community.
In severe cases, a small jaw may cause problems with breathing or feeding. Our team will show you ways to position your baby to help them breathe. We will provide special bottles for feeding your baby. In rare cases, your baby may need a breathing tube.
Long-term, we may recommend surgery to lengthen your child’s jaw.
When your child is about 6 years old, you will meet with one of our dentists or orthodontists. Your child’s treatment plan may include a dental appliance or braces to improve teeth alignment or repair bone structure.
If your child needs surgery to lengthen their jaw, it will take place at 4-7 years old. There are many techniques, but the most common is distraction osteogenesis. We make a cut on each side of the lower jaw bone and place a metal device under the skin. This device slowly and painlessly moves the jaw and tongue forward.
If your baby has a cleft lip or cleft palate, our team will discuss a treatment plan with you right after birth. Cleft lip surgery usually takes place at 3 to 4 months. Cleft palate surgery usually takes place at about 12 months. Learn more about cleft lip and cleft palate treatment.
Many children with craniofacial microsomia have ears that are small, unusually shaped or missing. We may recommend a custom-made artificial ear, or plastic surgery to reconstruct or repair the ear.
Our experts usually recommend ear surgery when your child is 6-8 years old and their ears have almost reached their adult size. Our craniofacial surgeon will explain the options in detail to help you choose the best treatment for your child.
Facial grafting surgery may help if your child has very small cheekbones or severe problems with facial movement. It may also help reduce differences between the two sides of your child’s face. We usually recommend grafting surgery when a child is about 10 years old.
Additional services for craniofacial microsomia
We will meet with you and your child every year for an exam and follow-up care. Our nurse practitioner will help you find speech therapy, orthodontics and other care resources. A pediatric psychologist is available to support your child and family.
If your child is diagnosed with craniofacial microsomia during your pregnancy, we will connect you to the OHSU Doernbecher Fetal Care Program, the only comprehensive program of its type in Oregon. A team of specialists in neonatal care, maternal-fetal medicine and pediatrics can help you prepare for your child’s birth.
- Craniofacial Microsomia, Genetics Home Reference
- Hemifacial Microsomia, FACSE (National Craniofacial Association)
- Craniofacial Microsomia, Genetic and Rare Diseases Information Center
Call 503-346-0640 to:
- Request an appointment
- Seek a second opinion
- Ask a question
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Doernbecher Children’s Hospital
700 S.W. Campus Drive
Portland, OR 97239
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For referring providers
Refer your patient to OHSU Doernbecher.
Call 503-346-0644 to:
- Seek provider-to-provider advice.
- Request education about plagiocephaly or other conditions.