Chromosomal and Genetic Conditions

Craniofacial Microsomia

What is craniofacial microsomia?

In children with craniofacial microsomia (CFM), part of the face is smaller than normal. Usually it affects the ears and jaw. It also can affect the eyes, cheeks and bones of the neck. Microsomia is pronounced my-kruh-SO-mee-uh.

CFM is the second-most common birth defect affecting the face. The most common is cleft lip or palate.

Seattle Children’s researchers are working on a standard way to diagnose the condition. This should improve the accuracy of estimates. Now, estimates range from 1 in 5,600 to 1 in 26,550 newborns. It is more common in boys than in girls.

What causes craniofacial microsomia?

We do not know why children are born with craniofacial microsomia. We know that something changes the development of the face starting in early pregnancy.

Possible causes include changes in genes (mutations). Using certain medicines during pregnancy may also increase the risk of CFM. It may be caused by a combination of genetic and environmental factors.

For most children, craniofacial microsomia is not passed down from parents (inherited).

People who have a child with CFM have a slightly higher chance (2% to 3%) of having another child with similar differences. In rare cases, some families have an even higher chance.

For children who have relatives with similar facial differences, we recommend a visit with a counselor at our Craniofacial Genetics Clinic.

Craniofacial Microsomia at Seattle Children’s

Most families have never heard of craniofacial microsomia before their child is born with it. CFM is one of the most common problems that we treat at Seattle Children’s Craniofacial Center. In the past 5 years, we have cared for more than 250 children with features associated with CFM.

Many of our patients are babies who are newly diagnosed. We also work with children who were first treated at another hospital.

Please call the Craniofacial Center at 206-987-2208 for more information, a second opinion or to make an appointment.

  • Our Craniofacial Center has experts in every field your child might need. These 50 specialists work together to diagnose and care for our patients.

    Our team meets weekly to discuss children with complex needs and decide on the best care plan for each child. We work together, and with you and your family’s doctor, to coordinate your child’s personalized care.

    A craniofacial pediatrician, nurse and social worker will work closely with your family. They coordinate your child’s care and make sure all your questions are answered.

    Your child’s craniofacial pediatrician guides your child’s treatment and decides if other specialists are needed. Your child’s team may include an audiologist; craniofacial plastic surgeon; dietitian; ear, nose and throat doctor (otolaryngologist); eye doctor (ophthalmologist); oral-maxillofacial surgeon; orthodontist; and speech therapist.

  • As your child grows, we do surgeries they may need, whether to enlarge and align their jaws, reshape or rebuild their ears, improve hearing or mend a cleft lip or palate.

    Our team is experienced in the range of procedures your child may need. See Statistics and Outcomes for details on the patients we care for and procedures we perform.

  • A diagnosis of craniofacial microsomia can be scary. We take time to explain your child’s condition and answer all your questions. We help you fully understand your treatment options and make the choices that are right for your family.

    As your child gets older, we make sure they play a role in decisions about their medical care.

    Our child life specialists and social workers support your child and family through the challenges of this condition. We connect you to resources and support groups in your community.

    Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental United States. We also care for children from across the globe. This experience has helped us develop systems to provide outstanding, personalized care at great distance.

  • We receive more research funding from the National Institutes of Health (NIH) than any other craniofacial center in the United States.

    Our researchers are:

    • Investigating long-term outcomes for children with malformations of the jaws and ears.
    • Working on standard ways to define and treat craniofacial microsomia.
    • Studying the changes in genes that cause microtia (undersized outer ear). This often affects children with CFM.

    Learn about research at Seattle Children’s into craniofacial microsomia and microtia.

Symptoms of Craniofacial Microsomia

Most babies with CFM have facial differences. The jaw and ears are affected most often.

These differences can cause problems with feeding, breathing, chewing, hearing or speech.

Children with craniofacial microsomia may have the following differences. The symptoms may be mild or severe.

Ears

  • Small ears (microtia) or missing ears (anotia)
  • Missing ear canal (aural atresia)
  • Hearing loss

Face

  • One side of the face looks different than the other (asymmetry)
  • Facial palsy (difficulty with muscle movement)
  • Small cheekbones
  • Wide mouth caused by a cleft along the corner of the mouth (macrostomia)
  • Cleft lip and/or palate
  • Tags of skin in front of the ear or on the face
  • Pinkish-white growth on the eye (epibulbar dermoid)
  • Small, malformed eyes (microphthalmia)

Jaw and teeth

  • Limited opening of the mouth (trismus)
  • Shortness of lower jaw
  • Crooked lower jaw
  • Teeth that do not fit together well (malocclusion)

Less often, craniofacial microsomia affects the spine, kidneys, heart or other parts of the body.

Diagnosing Craniofacial Microsomia

To diagnose this condition, your doctor will examine your child’s face and head carefully. Your child’s ears, face, jaw and teeth will help the doctor determine whether they have CFM or another condition.

X-rays and CT (computed tomography) scans can give the doctor more information and help us plan the best treatment for your child.

Craniofacial microsomia has many other names. It also is called:

  • Hemifacial microsomia
  • First and second branchial arch syndrome
  • Otomandibular dysostosis
  • Oculo-auriculo-vertebral sequence
  • Facio-auriculo-vertebral syndrome
  • Goldenhar syndrome
  • Lateral facial dysplasia

Treating Craniofacial Microsomia

There is no single treatment plan for CFM. The care plan we recommend depends on your child’s age and how CFM affects them.

Your child’s care plan may include the following:

  • Babies with very small jaws may have breathing problems. If this is the case for your baby, your doctors will discuss the options to manage and correct the cause.

    Examples are:

    • Ways to help position your baby so they can breathe more easily
    • Surgery to lengthen the jaw and move it forward
    • For severe breathing problems, placing a breathing tube in the windpipe (tracheostomy

    Sometimes children have trouble breathing while they sleep (obstructive sleep apnea). Over time, this may lead to problems with how the heart and lungs work. It also can contribute to problems with learning and behavior.

    We will ask questions during clinic visits to assess if breathing is a problem for your child. To better understand their breathing patterns, we may monitor your child overnight in our sleep lab (PDF).

    The treatment options and timing will depend on your child.

  • Some babies with CFM have 1 of these conditions, which may affect their feeding:

    • Small jaw
    • Cleft lip
    • An opening in the roof of their mouth (cleft palate)
    • Cleft in the side of the mouth (macrostomia)

    Your baby may not be able to breastfeed or use regular bottles. We help you with feeding techniques during infancy.

    We will check regularly to make sure that your baby is gaining weight. A dietitian may see you in the clinic to help with your child’s diet.

    If your baby has a cleft lip or palate, our surgeon will talk with you about repairing it.

    • Cleft lip surgery usually takes place when a baby is 3 to 4 months old.
    • Cleft palate surgery usually happens at about 1 year.

    See Cleft Lip and Palate Treatments.

  • At least half of children with craniofacial microsomia have hearing loss. There may be:

    • Ear canals that are missing or very narrow
    • Problems with the 3 bones in the middle ear that transmit sound
    • Problems with the inner ear
    • Nerve or brain processing delays related to hearing

    Most often, your baby’s hearing is screened in the hospital soon after birth or within a few days.

    If problems are found, we do further testing. A specialist trained to test hearing in infants and children (audiologist) will perform the tests.

    As your child grows, they will have a variety of hearing tests based on their hearing status and ear health.

    Our ear, nose and throat specialist (otolaryngologist) and audiologist will talk with you and your child about hearing management. This includes:

    • Whether hearing aids are needed
    • How to prevent further hearing loss
    • The best place to sit in the classroom when your child reaches school age

    The small size of the outer ear may make it hard for your child to wear hearing aids. One option might be bone-anchored hearing aids that are attached with a tiny screw.

    Your child may need a CT (computed tomography) scan to examine their middle and inner ear. We do this when your child is about 5 years old. At that age, the ear is almost fully grown. CT scans help doctors decide if surgery to restore hearing is likely to be successful.

  • Many children with craniofacial microsomia have ears that are small, unusually shaped or missing. This is called microtia (PDF).

    Deciding to repair the ears is a family choice. Some families decide to do nothing. Others choose surgery or a custom-made artificial ear (prosthetic).

    Most often, this treatment starts after age 6. By this age, a child’s ears have almost reached their adult size.

    Some artificial ears are attached using an adhesive. These do not require surgery. They must be removed daily so the area can be cleaned.

    More often, a prosthetic ear is inserted under the skin (Medpore implant) during surgery. After healing, no special care is needed.

    Most surgeries to improve ear shape require at least 3 operations over time. After the ear is rebuilt, it looks better but not completely normal.

  • With CFM, facial differences range from mild to severe. We tailor treatment to your child’s and family’s needs.

    Surgery to repair a cleft of the mouth

    Some children with CFM have a cleft along the corner of the mouth. Muscles around their mouth are separated. This causes an abnormally wide mouth (macrostomia) that can make it hard to feed and form sounds for speech.

    This can be fixed by surgery that makes a complete ring of muscle around your child’s mouth.

    • Surgeons carefully cut into the skin, the muscle and the tissue inside the mouth.
    • They use a small zigzag incision. This helps to hide any scars.
    • Surgeons use nearby muscles to form a complete ring of muscle around your child’s mouth.
    • They also bring the corners of the mouth closer together. This gives the mouth a more normal shape and function.

    Facial reanimation for palsy

    Some children with CFM have weakness or trouble with movement in the face. This is called facial palsy. It happens because the nerves in the face are not working right.

    Often, facial palsy improves in the first few years of life.

    If your child has severe problems with facial movement, your child’s team will include specialists from our Facial Reanimation Clinic. They will determine if surgery is likely to improve your child’s facial movement.

    Options to improve facial symmetry

    In about 65% of people with CFM there are differences in how the 2 sides of their face look (facial asymmetry).

    The differences may be reduced by certain surgeries your child may have — such as those that correct problems with the mouth or jaw or improve movement in the face.

    If you or your child has concerns about how their face looks, talk to your child’s team. The treatment options depend on your child’s age. They range from counseling to surgery.

    Skin tags

    Some children with CFM have skin tags, most often in front of their ears. Skin tags are tiny extra pieces of skin. They may have a small narrow stalk connecting the skin bump to the surface of the skin, or they may be attached deeper below the skin. They are painless.

    If your child has skin tags, your team will talk with you about whether to remove them.

  • Many children with CFM have a small lower jawbone. This can cause problems with breathing.

    Your child’s teeth may not fit together well. Some children also have an undersized upper jaw.

    A dentist or orthodontist will look to see if your child’s teeth are too crowded or if they are missing some teeth. The orthodontist also checks how well the upper and lower jaws fit together.

    Starting at about 6 years, we will talk with you about the best treatment and timing for your child.

    • Some children may need a dental appliance or braces for the best dental function and appearance. Most often this happens when your child is a teenager. Some children may need this sooner.
    • Orthodontics might be done alone or in combination with surgery, depending on your child’s needs.
    • When facial and jaw growth is nearly complete (age 13 to 16 years), many children with CFM will need orthodontics to properly align their teeth.

    Learn more about craniofacial orthodontics.

    Enlarging the jaw

    Many children with a small jaw benefit from jaw lengthening (orthognathic) surgery to correct their bite. Our craniofacial orthodontist and surgeon work together to plan the best treatment for your child.

    Your doctor may recommend:

    • A bone graft to lengthen the jaw or to make a new jaw joint. A graft uses bone or cartilage from another part of the body. We first consider this option when your child is 4 to 7 years old.
    • Mandible distraction to increase the size of your child’s lower jaw. Watch a slideshow that demonstrates how this procedure was used for a child born with bilateral craniofacial microsomia.
    • Le Fort I maxillary advancement if your child’s upper jaw needs to be larger and moved forward.
  • Some children with CFM have a cleft lip or palate. In others, the muscles in the back of the mouth don’t work right. This is a type of velopharyngeal dysfunction (VPD).

    VPD and clefting can harm your child’s ability to make speech sounds.

    If you or your doctors have concerns about your child’s speech, your child will see a speech and language pathologist (SLP).

    Treatment options may include:

    • Speech therapy to help develop more normal speech patterns.
    • A custom-made speech appliance called an obturator.
    • Surgery. This is likely if your child has a type of VPD called velopharyngeal insufficiency. Your surgeon and speech pathologist will work together to recommend what is best for your child.
  • Some children with CFM have a pinkish-white growth on the eye (epibulbar dermoid). If your child does, an eye doctor (ophthalmologist) on our team will check your child’s eyes for other differences.

    The doctor monitors the growth on the eye to make sure it does not interfere with your child’s sight. If it is large or getting in the way of vision, the doctor may recommend surgery to remove it.

  • Some children with CFM have problems with the spine. Usually, the problem is in the top part, called the cervical spine.

    Your child’s craniofacial pediatrician will order X-rays when the bones are well formed. This happens when your child is at least 3 years old.

    If the X-rays show differences in the way your child’s bones fit together, your doctor will order more tests.

  • Children with CFM have an increased chance of kidney problems. We recommend that all children with CFM have an ultrasound of their kidneys when they begin treatment at Seattle Children’s.

    We are looking to make sure that the kidneys were formed normally. If your child has a normal ultrasound, they will not need another one in the future.

    This ultrasound usually takes less than 20 minutes. It does not require needle pokes or medicine.

    It is rare for children with CFM to have problems with their heart. Your doctor may decide that your child needs an echocardiogram (ultrasound picture of the heart) to check for abnormalities. If you have concerns talk to your doctor.

Contact Us

Contact the Craniofacial Center at 206-987-2208 for an appointment, a second opinion or more information.