Goldenhar syndrome

Alternative Names:Oculoauriculo-vertebral spectrum(OAV).

Definition:
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.It  is a highly complex combination of malformations which leaves babies with an underdeveloped face.

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The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ/verterbrae disruption.

Goldenhar syndrome was first described by Dr. Maurice Goldenhar in 1952.

It affects between 1/3500 to 1/26000 live births in the UK

 

Symptoms:
Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing 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 incidence 10% of confirmed GS cases).

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.

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes).Deafness/blindness in one or both ears/eyes.

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Causes:
The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.

An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested but the difference was shown to be statistically insignificant

Diagnosis
There is not a genetic test that can diagnose Goldenhar syndrome. The diagnosis is made when an individual has the common symptoms associated with the condition. The diagnosis is made by a physician.

Treatment :
Once a child is diagnosed with Goldenhar syndrome, additional tests should be performed. A hearing evaluation is necessary to determine if there is hearing loss. If hearing loss is evident, the child should be referred to a hearing specialist. Speech therapy may also be helpful. X rays of the spine are recommended to determine if there are vertebral problems, and the severity. Individuals with Goldenhar syndrome should also be regularly evaluated for scoliosis. Renal ultrasounds and ultrasounds of the heart may also be recommended, due to the increased risk for birth defects in these areas. A doctor would make this recommendation. Finally, individuals with Goldenhar syndrome should be evaluated by an eye doctor (ophthalmologist).

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Surgery may be required to correct the birth defects seen in Goldenhar syndrome. Surgery to correct the facial birth defects can improve appearance and function.

It is necessary to help the child to develop e.g. jaw distraction/bone grafts, occular dermoid debulking, repairing cleft palate/lip, repairing heart malformations, spinal surgery. Hearing aids placed in one or both ears.

Some patients with Goldenhar syndrome will require assistance as they grow by means of hearing aids or glasses.

Prognosis
The prognosis for individuals with Goldenhar syndrome is very good. These individuals typically have a normal life span and normal intelligence.

Prevention:
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.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/goldenhar_syndrome.shtml
http://www.healthline.com/galecontent/goldenhar-syndrome/3
http://en.wikipedia.org/wiki/Goldenhar_syndrome
http://confessionsofateacher.files.wordpress.com/2009/12/867477.jpg
http://www.pharmacyescrow.com/blog/index.php/2011/03/11/goldenhar-syndrome/
http://www.i-am-pregnant.com/Birth/Birth-defects/Goldenhar-SyndromeGoldenhar syndrome

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