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Goldenhar

Posted: 02 May 2002 | Subscribe Online


The case of the baby who became the subject of an interim care order on Newcastle Royal Victoria Infirmary's recommendation that she would need treatment for respiratory difficulties, brought a little known disability to public attention, writes Natalie Valios.

Goldenhar syndrome, also known as oculo auriculo vertebral spectrum, is characterised by abnormalities of a combination of the cheekbones, jaws, mouth, ear, eyes and the vertebrae. The ear canal may be absent and unilateral deafness is common. Facial abnormalities result in the face appearing smaller on one side than the other and can include:

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- Macpostoma: the opening of the mouth is larger and extended towards one ear.

- Hypoplasia: facial muscles are underdeveloped.

- Small or misshapen ears.

- Problems with the mouth, for example a lack of saliva, or problems with the shape of the tongue or its use.

- Speech problems.

- Hemivertebrae: spinal vertebrae which are small or not completely formed on one side.

- Prfauficular: skin tags.

- Underdevelopment of face muscles.

The disorder is often referred to as hemifacial microsomia when abnormalities mainly affect the jaw, mouth and ears and one side of the body. It is termed Goldenhar syndrome when there are also irregularities with the vertebrae and eyes. It is a rare disability, in most cases appears randomly with no apparent cause, and little is known as to why it occurs.

For more details contact the Goldenhar Family Support Group on 01580 714042 or at www.cafamily.org.uk, and Sense on 020 7272 7774 or at www.sense.org.uk  



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