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Goldenhar syndrome

What are the symptoms?

The muscles of the affected side of the face are under developed and there are often skin tags or pits in front of the ear, or in a line between the ear and the corner of the mouth. There are often abnormalities of the middle ear and the ear canal may be completely absent and deafness (one-sided) is extremely common.

There are also eye abnormalities including cysts and notches in the lids, squints and occasionally small eyes. Children with the Goldenhar end of the spectrum may have a variety of heart problems. A variety of kidney abnormalities may also be present. There are a number of other rarer congenital abnormalities that may occur. Most individuals with Goldenhar syndrome are of normal intelligence although learning difficulties can occur in about thirteen per cent of cases. These are usually language problems as a result of deafness. There may also be speech and swallowing problems. Many babies with Goldenhar syndrome have poor weight gain in the first year or two of life.

View Background Background  |  What are the causes? View What are the causes?

Medical text written November 1999 by Dr J A Hulse, Consultant Paediatrician, Maidstone Hospital, Maidstone, UK. Last updated December 2008 by Professor J M Connor, Head of Department and Honorary Consultant, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK.

 

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