What is Goldenhar syndrome?

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

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.

 

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This page was last updated on: 1/29/2019 3:21:13 PM