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 was first described by the Swiss ophthalmologist Maurice Goldenhar in 1952.

Etymology

The term Goldenhar Syndrome is derived from the name of the Swiss ophthalmologist Maurice Goldenhar who first described the condition. The term oculo-auriculo-vertebral spectrum (OAVS) describes the range of physical characteristics that can occur in individuals with this condition.

Symptoms

Goldenhar Syndrome is characterized by a wide range of symptoms, which can vary greatly in severity. Common symptoms include microtia (underdeveloped ears), hemifacial microsomia (underdevelopment of one side of the face), epibulbar dermoids (benign growths on the eye), and vertebral anomalies (abnormalities in the spine).

Diagnosis

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

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 spinal abnormalities.

Prognosis

The prognosis for individuals with Goldenhar Syndrome varies depending on the severity of symptoms. With appropriate treatment and support, many individuals with Goldenhar Syndrome can lead healthy, productive lives.

See also

• Congenital disorders
• Craniofacial abnormalities
• Genetic disorders

External links

• Medical encyclopedia article on Goldenhar Syndrome
• Wikipedia's article - Goldenhar Syndrome

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