Goldenhar syndrome - clinical features, investigation, management

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07/14/23

Goldenhar syndrome is a craniofacial syndrome, which means that it causes certain abnormalities in the formation of the face and head. It is considered a rare disease and a congenital one, meaning it’s present at birth. Goldenhar is present in just 1 out of every 3,500 to 25,000 babies at birth. Another name for Goldenhar is oculoauriculovertebral dysplasia.

In people with Goldenhar syndrome, abnormalities appear mostly in the areas of the ears, eyes, and spine. This condition can also affect the structure of the face, and some internal organs. The severity of the abnormalities and symptoms varies by individual.