Goldenhar Syndrome

Also known as: Goldenhar disease, oculo-auriculo-vertebral syndrome, hemifacial microsomia, craniofacial microsomia.

What is Goldenhar syndrome?

Goldenhar syndrome is a disorder that is present at birth. It usually manifests as congenital anomalies of the eye, ear on one or both sides of the face, as well as spine. It can also affect other parts of the body such as jaw development.

What causes Goldenhar syndrome?

The cause of Goldenhar syndrome is not entirely clear. It is suspected that problems with blood flow while the fetus is developing may contribute to the condition. Goldenhar syndrome occurs due to changes in a chromosome, but why those changes occur isn’t known. In rare instances (about 2% of the time), Goldenhar syndrome is genetic and is passed on from parents to children.

A few risk factors appear to increase the risk of the fetus developing Goldenhar syndrome while the mother is pregnant. Those include gestational diabetes, malnutrition, high blood pressure, tobacco use, and the use of certain medications, including retinoic acid, a common acne medication.

What are the symptoms of Goldenhar syndrome?

Individuals with Goldenhar syndrome may have a missing or partially developed ear, cleft lip, cleft palate, other face or jaw problems, eye problems, a large or small mouth, tooth issues, spinal malformation and heart, kidney and lung problems, among other symptoms.

How is Goldenhar syndrome diagnosed?

In many cases, babies can be diagnosed with Goldenhar syndrome based on physical appearance. Additional tests may be used to confirm the diagnosis, including:

• Echocardiograms to evaluate heart function
• Eye exams to check for irregularities
• CT scans to look for changes in ear structure
• Ultrasounds or X-rays to examine the spine, lungs, kidneys, or skull
• Sleep studies to look for obstructive sleep apnea

In rare cases, specialists can diagnose Goldenhar syndrome before birth based on the physical appearance of the fetus. The condition may be diagnosed well after birth in some cases, as well.

How is Goldenhar syndrome treated?

Goldenhar syndrome cannot be cured. Treatment is focused on helping people live their best life possible with the disease. This can include: 

• A craniofacial team to treat any facial anomalies that require surgery, such as ear reconstruction or jaw surgery
• Plastic surgeons for any reconstructive surgery that may be needed
• Vision specialists to address eye and vision problems
• Audiologists to address hearing and ear abnormalities
• Neurosurgeons to treat problems related to the brain or skull
• Dental care for anomalies of the teeth, mouth, or gums
• Speech therapists for help with communication issues as your child grows
• Heart specialists for any issues related to the heart