What is Goldenhar Syndrome?
In This Article
Goldenhar syndrome is a congenital problem connected with head and spinal cord deformities. Head deformities can affect the eyes, ears, face and mouth. These various deformities can also differ greatly in the degree of seriousness. The precise etiology of Godenhar syndrome has still not been identified yet.
What are the Symptoms of Goldenhar Syndrome
The deformities associated with Goldenhar syndrome are usually restricted to the head and spine. About 30% of people who have Goldenhar syndrome suffer from bilateral facial deformities. In these cases, the right lateral part of the face is typically affected more seriously.
The symptoms of Goldenhar syndrome can be very different. Several people suffering from Goldenhar syndrome can have serious deformities, whereas others may show few or minor congenital deformities.
Hemifacial microsomia is a common facial abnormality found in Goldenhar syndrome. It is brought about by hypoplasia or underdevelopment of the facial bones: the mandible and the maxilla. Additionally, the facial muscles might also be underdeveloped. Another facial abnormality is the occurrence of cleft lip and palate. Cleft lip is an unusual opening or split in the lip area that can spread to the nose or cheek. Cleft palate is an opening in the roof of the mouth. People suffering from Goldenhar syndrome might also have macrostomia, commonly known as ‘wide mouth’.
Congenital deformities of the eye are common in Goldenhar Syndrome. Epibulbar (cysts in the eyeball) are commonly seen together with micropthalmia (small eyes). Several people who have Goldenhar syndrome may suffer from coloboma (missing tissue from the upper eyelid). Strabismus (crossing of the eyes) is also a common occurrence.
Deformity of the ears is another sign of Goldenhar. The ears may appear smaller than normal (microtia), or in some cases they may be absent (anotia). Ear tags or additional pieces of skin may be found on the cheek, close to the ear, and may spread to the corners of the mouth. The shape of the ears may also be abnormal. Loss of hearing is a typical problem for people suffering from Goldenhar syndrome.
The spinal deformities associated with Goldenhar syndrome are brought about by underdevelopment of the spine. The spine may be partially developed (mivertebrae), absent or fused. The ribs can also be deformed as a result. About 50% of people who have Goldenhar syndrome have scoliosis (spinal curvature).
Other abnormalities aside from facial and spinal can also be present in Goldenhar syndrome. About 15% of people who have Goldenhar also suffer from delays in mental development, or mental retardation. The probability of mental retardation increases if the person has microphthalmia. Heart and kidney abnormalities can also occur.
How is Goldenhar Syndrome Treated?
Once a person is confirmed to have Goldenhar syndrome, more examinations will normally be necessary. These typically include:
- Hearing test: to assess if there is any loss of hearing. If there is evidence of hearing loss, the person should consult a hearing expert.
- Speech testing and therapy may also be recommended if necessary.
- Spinal X-rays: to assess if spinal deformities are present.
- Regular examination for Scoliosis.
- Kidney and heart ultrasounds may be recommended because of the heightened risk of congenital deformities.
- Eye test: examination by an eye specialist or ophthalmologist to establish if any vision impairment exists.
Surgery may be needed to fix any congenital deformities found in Goldenhar syndrome patients. Surgery to fix any facial congenital deformities can enhance the look and performance of the affected area.
The outlook for people who have Goldenhar syndrome is excellent. These people usually go on to lead a full and normal life.
Goldenhar Syndrome Pictures
Eye and ear deformities pictures
Goldenhar syndrome eye deformities (clear view)
Cleft lip in goldenhar syndrome people
Dentition deformities pictures
Edited and Proofreaded by Chris on 30/08/2012