Goldenhar Syndrome

What is Goldenhar syndrome?

Goldenhar syndrome is a highly complex combination of malformations which leaves babies with an underdeveloped face.

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Symptoms

The main features of the condition affect the ear, which may not have developed at all. This combines with underdevelopment of the jaw and cheek on the same side of the face. When these are the only problems it is normally referred to as hemi-facial microsomia and sometimes the condition stops there. But when associated with other abnormalities, particularly affecting the vertebrae in the neck it is referred to as Goldenhar Syndrome, or ‘oculoauricular dysplasia’. Dental problems are common due to the difference between both sides of the face and the jaw bones.
Goldenhar children very occasionally have been known to have heart and kidney abnormalities.
Most individuals with the syndrome are of normal intelligence although learning difficulties can occur in about 13% of cases. However there are usually language problems as a result of deafness and there may be speech and swallowing problems.
Many babies with Goldenhar Syndrome have poor weight gain in the first year or two of life as a result of their dental abnormalities.

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Treatment and prevention

Surgeons can perform operations to improve the growth of the face - especially the jaw. Children may receive early treatment for the associated heart problems and they may need ongoing dental treatment as they grow. There has been progress in identifying the condition through pre-natal scanning and it is thought the risk of having another affected child is small.