What is Goldenhar Syndrome & How is it Treated?|Causes, Symptoms of Goldenhar Syndrome

What is Goldenhar Syndrome?

Goldenhar syndrome is a condition that mainly affects the formation of important organs of the body such as eye, ear, spine, face, head, etc. This disease mainly occurs at the time of childbirth. Goldenhar syndrome is very rare and is found in 1 baby out of 2500 babies during birth. Goldenhar syndrome is also called as oculoauriculovertebral dysplasia. It is necessary to be aware of the symptoms, causes, diagnosis and treatment of Goldenhar syndrome, to be able to manage the condition better.

Symptoms of Goldenhar Syndrome

It is seen that the symptoms of Goldenhar syndrome vary from person to person. The commonest symptoms of Goldenhar syndrome are the abnormalities on face particularly hemifacial microsomia. In most cases, it is seen that the bones and the muscles of the face remain underdeveloped. Some other symptoms seen are defects in eyes, ears, and spine. As defective eyes there may be some problems on the growth of eyes or the eyelid may be missing or the eyes can be small. When it comes to defective ear you may observe small ears, missing ears, hearing loss, etc. You may observe that the baby has a curved spine as one of the symptoms of Goldenhar syndrome in the spine.

Causes of Goldenhar Syndrome

Goldenhar syndrome mainly occurs in infants when the baby is born. The main causes of Goldenhar syndrome include the abnormality in chromosomes. It is not an inherited disease however sometimes Goldenhar syndrome is found to be inherited as a genetic disorder. When Goldenhar syndrome is caused due to the inheritance of genes, it is mostly seen that the abnormal chromosome is not related to sex. In most of the case, the gene is found to be dominant. However, it can also be repressive. There is no specific gene that can be held responsible as a cause of Goldenhar syndrome.

Diagnosis of Goldenhar Syndrome

As far as diagnosis of Goldenhar syndrome is concerned, there is no chromosomal or genetic test available for confirming Goldenhar syndrome. The doctor and experts usually suspect Goldenhar syndrome by only observing the symptoms and performing some other type of test to detect the abnormalities in ear, eyes, spine or the other parts. The hearing ability and vision of the child is examined to determine, which aids the diagnosis of Goldenhar syndrome. Sometimes, X-ray of the spine of the child is conducted for finding out the problems with vertebrae. Doctors may also conduct ultrasound for detection problems in kidney issues or ECG for the heart problems. The results of these tests pointing towards the specific characteristics can help in confirming the diagnosis of Goldenhar syndrome.

Treatment of Goldenhar Syndrome

The treatment of Goldenhar syndrome actually varies from person to person which actually depends on the requirement of the patient. If the case is not so serious then there is no requirement for treatment; it will resolve with time. In most cases, the treatment of Goldenhar syndrome may be symptomatic. For defects in ear and hearing it is necessary to check with a hearing specialist or the child may require some kind of hearing aid. If there is a problem with vision then the child may require glass or lens or surgery depending on the condition of the child. In case, there is a problem in spine or heart surgery may be required. Thus, there is no particular treatment of Goldenhar syndrome – depending on the problem doctors decide the treatment that will be best suited for the child.


Goldenhar syndrome is a rare, serious congenital disease. Unfortunately, the diagnosis of Goldenhar syndrome is very tough as there is no specific criteria for diagnosis. As the disease is a rare one, data available for it is also not so organized. In case you observe any of the above-mentioned symptoms in a newly born baby, it is very important to check with your physician and consider starting appropriate treatment at the earliest. With the knowledge of symptoms, causes, diagnosis and treatment of Goldenhar syndrome, can help in seeking timely medical advice.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:March 7, 2019

Recent Posts

Related Posts