Goldenhar syndrome

Goldenhar Syndrome

Goldenhar Syndrome (pronounced: /ˈɡoʊldənhɑːr ˈsɪndroʊm/), also known as oculo-auriculo-vertebral spectrum (OAVS), is a rare congenital disorder characterized by abnormal development of the eye, ear, and spine. The syndrome is named after Maurice Goldenhar, a Swiss ophthalmologist who first described the condition in 1952.

Etymology

The term "Goldenhar" is derived from the name of the Swiss ophthalmologist Maurice Goldenhar who first described the condition. The term "syndrome" comes from the Greek word "σύνδρομον" (syndromon), meaning "concurrence of symptoms," or "running together."

Symptoms

Goldenhar Syndrome is characterized by a wide range of symptoms, including:

Microtia: Underdevelopment of the external ear
Hemifacial microsomia: Underdevelopment of one side of the face
Epibulbar dermoid: Benign growths on the eye
Vertebral anomalies: Abnormalities in the spine

Causes

The exact cause of Goldenhar Syndrome is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some researchers suggest that it may be caused by a disruption in the development of the first and second branchial arches during embryonic growth.

Diagnosis

Diagnosis of Goldenhar Syndrome is typically based on a physical examination and the presence of the characteristic symptoms. Imaging tests such as MRI or CT scan may also be used to confirm the diagnosis.

Treatment

Treatment for Goldenhar Syndrome is symptomatic and supportive, and may include surgery to correct facial abnormalities, hearing aids for hearing loss, and physical therapy for spine abnormalities.

References

External links

Medical encyclopedia article on Goldenhar syndrome
Wikipedia's article - Goldenhar syndrome

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Goldenhar syndrome