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Goldenhar syndrome

Goldenhar syndrome - AKA Oculo-Auriculo-Vertebral (OAV) syndrome, sometimes used interchangably with Hemifacial Microsomia (although this definition is usually reserved for cases without internal organ/verterbrae disruption) - is a congentinal defect affecting between 1/3500 to 1/26000 live births in the UK. more...

Gardner's syndrome
Gastric Dumping Syndrome
Gastroesophageal reflux
Gaucher Disease
Gaucher's disease
Gelineau disease
Genu varum
Geographic tongue
Gerstmann syndrome
Gestational trophoblastic...
Giant axonal neuropathy
Giant cell arteritis
Gilbert's syndrome
Gilles de la Tourette's...
Gitelman syndrome
Glanzmann thrombasthenia
Glioblastoma multiforme
Glucose 6 phosphate...
Glycogen storage disease
Glycogen storage disease...
Glycogen storage disease...
Glycogenosis type IV
Goldenhar syndrome
Goodpasture's syndrome
Graft versus host disease
Graves' disease
Great vessels transposition
Growth hormone deficiency
Guillain-Barré syndrome


Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palette, lip, and mandible on usually one side of the body. Additionally, there are often issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate inicidence 10% of confirmed GS cases).

Other problems can include scoliosis (twisting of the vertebrae), and lipodermoids (fat in the eye).


Causes of Goldenhar Syndrome are unknown, although there is anecdotal evidence linking it to exposure to certain toxins (e.g. dioxin) before or during pregnancy. There is circumstantial evidence suggesting the incidence of GS is higher in children of gulf war veterans (see gulf war syndrome).


Treatment is usually confined to such surgical intervention as may be necessary to allow the child to develop normally (e.g. jaw transplants in cases where the patient would otherwise be unable to eat properly).


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A Family Affair: `We don't wrap Steven in cotton wool'
From Independent, The (London), 3/18/02 by Interview by Barbara Stainer

Nicola and Gerald Woodridge's son Steven, now aged nine, was born with Goldenhar syndrome (the condition affecting the baby at the centre of a recent legal battle between her parents and the hospital). At birth, he had an abnormal ear, a keyhole mouth, poor vision and hearing, and twisted vertebrae


Steven was born with Goldenhar syndrome. I knew nothing about the syndrome back then and so turned to various support groups for information and help. While I now consider Steven's case to be mild compared to many others, he was born with a lot of problems. He had a keyhole mouth, abnormal vertebrae so his head was on his shoulder, his ear was abnormal and both his hearing and his vision were poor. He also had to be tube-fed for three months at home.

As soon as I heard the word "syndrome", I nearly fell off the chair. My husband preferred to call it a disorder, it was his way of coping with it. But all through the pregnancy I felt that something wasn't right - most mums who have a child with Goldenhar say the same. My scans had come up normal - Goldenhar never shows up - but nothing could have been done anyway.

After Steven was born, I spent a lot of time talking to other mums and groups and accepted all the help I could. The first five years were tough; it was one hospital appointment after another. But we got all the support we needed and my mother lived close by. But soon a routine developed and we got to know all the doctors. They took a special interest in Steven and were fantastic. After all those years of corrective surgery, Steven now only suffers from bad hearing and a slightly abnormal ear - but it doesn't effect him day to day. He copes really well - he just gets on with life. He's a very happy child who doesn't let disability get in the way. As a family, we've never let the syndrome isolate us, nor has it ever put a strain on us. We've always been close but Steven having Goldenhar syndrome has brought us all even closer together.

The Family Support Group that I run has gone from strength to strength over the years, although we've had a low profile until recently when the well-publicised case of Goldenhar syndrome in the media suddenly flung us and the syndrome into the spotlight. There are over 75 families in our group and we gain so much support from one another. We have a meeting every two years - the next is this April in Sheffield - and publish monthly newsletters. The meetings are a great opportunity for us to get together and for the children to meet others who are just like them. They have a great time together, and all the mothers, myself included, just click. We have something we all share, so it's like one big happy family.


I was there when Steven was born, and didn't know what the problem was. It took over a week for us to find out that Steven had Goldenhar syndrome. As Nicola was a nurse she was able to explain it better to me and helped me to understand. Goldenhar is not a syndrome that people know about, and I was no exception. At first, not even the doctors understood what was wrong with Steven. But once we found out, all we could do was go with the flow and just try to adapt to our circumstances.

The next five years were very strained as we went from one hospital to the next while juggling work and looking after our other son, Mathew. We were dealing with four or five hospitals during that time, as Steven underwent various operations to correct his face, so it was a very testing period. I was especially concerned when he started school as I worried that kids might bully him. But thankfully he hasn't had many problems. The operations were all very successful and his face structure is good now - although he can't rotate his head and his hearing is impaired. But I don't think his face should be altered anymore, we should leave it until he is old enough to make the decision himself.

I don't get involved much with the running of the support group, but I attend all the meetings. I think what Nicola does is fantastic and know that the other parents really appreciate it. There's not much information out there so the group helps families understand all the various stages of Goldenhar syndrome, the problems and what can be done.

As for Steven, we never let him think he is different, just special.

Donations can be sent to the Goldenhar syndrome Family Support Group, 9 Hartley Court Gardens, Cranbrook, Kent, TN17 3QY

Copyright 2002 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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