Hemifacial Microsomia

What is hemifacial microsomia?

Hemifacial microsomia (craniofacial microsomia) is a condition you’re born with. It occurs when features on one side of your face don’t develop as they should. It most commonly occurs on one side of your face but can sometimes affect both sides (bilateral hemifacial microsomia).

Hemifacial microsomia can affect your:

• Cheekbones
• Eyes
• External and middle ear
• Facial nerves
• Lower jaw
• Muscles
• Neck
• Skull
• Teeth

Rarely, hemifacial microsomia involves other body systems, bones and soft tissues, like your heart, kidneys, ribs and spine.

Hemifacial microsomia affects 1 in every 3,000 to 5,600 live births. It’s the second most common facial anomaly after cleft lip or palate.

What are the symptoms of hemifacial microsomia?

Symptoms can range from mild to severe and usually involve the underdevelopment of one or more facial features. Hemifacial microsomia affects everyone differently, and the degree of involvement can vary. Some of the most common signs and symptoms include:

• Microtia (small, displaced or misshapen ear)
• Hypodontia (you never developed some of your teeth)
• Facial paralysis due to nerve issues
• Skin tags
• Small eye (microphthalmia)
• Uneven smile due to muscle and nerve issues

What causes hemifacial microsomia?

Experts don’t know why hemifacial microsomia happens. They believe something disrupts fetal development during the first six weeks of pregnancy.

Researchers haven’t linked any genes or environmental factors to hemifacial microsomia yet. But they think it could be hereditary. This is because some families have more than one person born with the condition.

What are complications of this condition?

In addition to facial abnormalities, people with hemifacial microsomia may develop complications like:

• Hearing loss
• Malnutrition due to difficulty eating
• Oral health conditions
• Speech disorders
• Vision issues

How is hemifacial microsomia diagnosed?

Healthcare providers typically start with a physical exam. They usually diagnose the condition shortly after birth. In some cases, they might detect it before birth using prenatal ultrasound or MRI (magnetic resonance imaging).

Your healthcare provider may need to run additional imaging tests to diagnose hemifacial microsomia, like:

• X-rays
• CT scans (computed tomography scans)

How is hemifacial microsomia treated?

Treatment for this condition depends on the severity of involvement. Children with hemifacial microsomia usually need surgery to repair or reconstruct their facial features. The type and timing of these procedures depend on your child’s needs. In infancy, the focus of treatment is to make sure your baby is breathing and feeding well. In childhood and adolescence, the goal of treatment is to improve the function and appearance of the face. It’s often necessary to delay procedures or do them in multiple stages as your child grows.

Surgical treatments

Surgical treatments for hemifacial microsomia include:

• Ear, nose and throat surgery
• Facial plastic surgery
• Eye surgery
• Maxillofacial surgery
• Oral surgery
• Plastic surgery

Neonatal surgery

If your newborn has breathing difficulties or is unable to nurse, your healthcare provider may treat your baby’s hemifacial microsomia immediately after birth. The most common procedures done after delivery include:

• Tracheostomy, an incision in your baby’s neck and windpipe to aid breathing
• Tube feeding, which gives your baby nutrition if they’re unable to nurse

Nonsurgical treatments

In addition to surgical treatments, your healthcare provider may recommend these nonsurgical therapies:

• Braces and other teeth-straightening devices
• Hearing aids for mild hearing loss
• Speech therapy to address challenges with swallowing and speaking

Can hemifacial microsomia be prevented?

You can’t prevent hemifacial microsomia because researchers don’t know what causes it. A genetic link is possible, but they haven’t identified it yet. If your baby has hemifacial microsomia, it’s not because of something you did (or didn’t do).

What’s the outlook for hemifacial microsomia?

In most cases, the condition doesn’t limit life expectancy. A child born with this condition can expect to live about as long as a child without it.

But hemifacial microsomia can affect quality of life. As children get older, they’ll have to cope with the challenges of looking different. Tasks that are easy for other children — like eating, talking or sleeping — may be difficult even with successful surgeries.

How do I take care of my child?

Children with hemifacial microsomia need ongoing medical care, including multiple surgeries. But once they reach early adulthood, they likely won’t need any more procedures. Long-term follow-up may be necessary to check for issues that come back or worsen over time. Hearing aids and implants may need adjusting.

Physical challenges and the psychological effects of looking different can impact your child’s emotional health. Seeking support through counseling is essential in helping your child develop coping strategies.

What’s the difference between hemifacial microsomia and Goldenhar syndrome?

Goldenhar syndrome (also known as oculoauriculovertebral spectrum, or OAVS) is a rare disorder that you can be born with. Hemifacial microsomia is one of the aspects of this syndrome, but people with Goldenhar syndrome may also have noncancerous tumors on their eyes (epibulbar dermoids) or spinal abnormalities in addition to hemifacial microsomia characteristics.