Is Goldenhar syndrome a rare disease?

Is Goldenhar syndrome a rare disease?

Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine. Also known as oculo-auriculo-vertebral spectrum or OAV, Goldenhar syndrome was first documented in 1952 by Maurice Goldenhar, an ophthalmologist and general practitioner.

How to diagnose Goldenhar syndrome?

There is no one genetic or chromosomal test to identify Goldenhar syndrome. A doctor or specialist makes a diagnosis by examining an infant or child and identifying the symptoms of the syndrome. When it is diagnosed, the child usually needs to have further tests, such as hearing and vision tests.

Is hemifacial microsomia genetic?

The gene or genes involved in hemifacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing hemifacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.

Does hemifacial microsomia affect the brain?

In addition to their differences in facial appearance, children with HFM have an increased risk of hearing loss, speech impairment, and feeding problems. Given the association between the developing face and brain,10 children with HFM have been thought to have neuropsychological deficits.

How many people have goldenhar?

Given these data, a very rough estimate for the number of people in the United States with Goldenhar syndrome ranges from 13,000-56,000 and estimates for the number of people worldwide with the syndrome ranges from 300,000-1,300,000.

Can Goldenhar syndrome be seen on ultrasound?

Conclusions: Goldenhar syndrome is a rare abnormality which could be diagnosed prenatally using non-invasive imaging methods as ultrasound scan and MRI.

Can you fix a crooked face?

Attempting to correct facial asymmetry with soft tissue fillers alone may improve volumetric symmetry, but will likely result in a soft, doughy appearance. When the asymmetry isn’t severe enough to warrant moving the jaw bones, facial implants may be used.

What is Goldenhar syndrome?

Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine.

What are the signs and symptoms of Goldenhar disease?

The signs and symptoms of Goldenhar disease vary significantly from person to person. Common signs and symptoms of the condition include: Microtia (a partially formed or completely absent ear) and other ear abnormalities. Underdeveloped facial muscles which may be associated with weakness.

What are the treatment options for Goldenhar syndrome?

Feeding issues – some people affected by Goldenhar syndrome may have feeding difficulties caused by the associated craniofacial abnormalities. Interventions may include special bottles, supplemental nasogastric feedings, and gastrostomy tube placement.

What is the prevalence of Goldenhar disease in the US?

However, it has been estimated that the frequency of Goldenhar disease ranges between 1 case per 3,500 births and 1 case per 25,000 births. [9]