Goldenhar Syndrome

What Is Goldenhar Syndrome?

Some babies are born with a condition called Goldenhar syndrome. It can cause incomplete development of bones in the face, affecting the ears, nose, soft palate, lips, and jaw. Usually, this happens on one side of the face only.

The condition also causes spine and ribcage abnormalities, and problems with the heart, kidney, lungs, and nervous system. Children with Goldenhar syndrome usually do as well as other kids in school.

What Are the Signs & Symptoms of Goldenhar Syndrome?

Symptoms of Goldenhar syndrome range from mild to severe. Kids may have problems with their:

• eyes (non-cancerous growths, missing parts, problems seeing)
• ears (small ear or missing ear, ear in a different position, hearing loss)
• face (difference in size between the two sides of the face; small cheekbone; a small jaw that is incompletely formed; weak muscles)
• mouth (cleft palate, uneven tongue)
• backbone (missing, joined, or misshapen bones; too much curve)
• ribs (missing or joined)

They may also have:

• trouble breathing while sleeping (sleep apnea)
• feeding problems during infancy
• difficulty talking
• heart problems
• an opening between the windpipe (trachea) and swallowing tube (esophagus)
• speech problems when they get older

What Causes Goldenhar Syndrome?

The cause of Goldenhar syndrome is unknown. Most cases happen in families with no history of the condition.

How Is Goldenhar Syndrome Diagnosed?

Doctors may suspect a baby has Goldenhar syndrome either before or after a baby is born.

Before birth. If a prenatal ultrasound scan shows signs of Goldenhar syndrome, the doctor may do other tests, such as

• fetal MRI (magnetic resonance imaging)
• fetal echocardiogram (heart ultrasound scan)

After a baby is born. Sometimes doctors notice signs of Goldenhar syndrome after a baby is born. If so, they’ll do:

• an exam
• breathing and feeding studies
• X-rays
• MRIs
• computed tomography (CT) scans
• ultrasound scans
• genetic tests

There’s no one test to confirm that a baby has Goldenhar syndrome. Doctors will make a diagnosis based on the signs and symptoms. Sometimes, they’ll do genetic testing to check for similar conditions.

How Is Goldenhar Syndrome Treated?

Treatment depends on a child’s symptoms and their age. Newborns may need treatment soon after birth if they have trouble breathing or feeding.

A team of medical experts, called a craniofacial team, treats the symptoms of Goldenhar syndrome. The team usually includes specialists who treat problems with:

• the ears, nose, and throat (otolaryngology or ENT)
• the eyes (ophthalmology)
• facial structure and appearance (plastic surgery)
• hearing (audiology)
• the nerves and brain (neurology, neurosurgery)
• speaking and swallowing (speech-language therapy)
• the teeth and jaw (dentistry, maxillofacial surgery)

The craniofacial team will work with other care providers for kids who also have problems in other parts of the body, such as the bones, heart, kidneys, or genitals. Children with Goldenhar syndrome may need a number of surgeries, which start when they’re babies.

How Can Parents Help?

It’s important to find a cleft and craniofacial team to oversee care for your child. Ask your primary care provider for recommendations, or check the ACPA website for accredited craniofacial teams in your area.

Kids with Goldenhar syndrome may feel different and worry about standing out. Someone who doesn’t know your child might assume they have limited abilities. This can bring challenges for your child, and the whole family. These tips may help:

• Talk to your care team. They can help if your child has challenges like worrying a lot or meeting new people. For example, if your child feels anxious in social situations or there’s a lot of stress at home, ask a member of the team if a psychologist or other mental health provider could help.
• Support your child. Encourage your child to do things they enjoy. When parents and others offer lots of love and support, they can help build a child's self-esteem.