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Goldenhar syndrome

Background

Goldenhar syndrome; Hemi-facial Microsomia; First and Second Branchial Arch syndrome; Facio-Auricular Vertebral Spectrum Oculo-Auricular Vertebral Dysplasia

The main features of this condition are an one-sided under development of one ear (which may even not be present) associated with under development of the jaw and cheek on the same side of the face. When this is the only problem it is normally referred to as hemi-facial microsomia but when associated with other abnormalities, particularly of the vertebrae (hemi-vertebrae or under developed vertebrae, usually in the neck), or involvement of both sides of the face, it is referred to as Goldenhar syndrome. It is likely however, that these are two ends of the spectrum of the same condition.

What are the symptoms? View What are the symptoms?

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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