What is Goldenhar Syndrome?

Goldenhar syndrome, also known as Goldenhar-Golin syndrome and oculo-auricolo-vertebral (OAV) syndrome, is a rare congenital condition which presents deformities in the head and spinal column bones. Initially discovered in 1952 by Dr. Maurice Goldenhar, individuals afflicted with Goldenhar syndrome have physical abnormalities present at birth. These differences can be mild or severe in nature. In some cases of Goldenhar syndrome, the physical irregularities can be seen bilaterally, or on both sides of the face, while other cases exhibit unilateral abnormalities, which are only seen on one side of the face.

Goldenhar syndrome can affect the eyes, ears, and lips. Those born with this condition can have partially developed or totally absent parts of the face, as well as hypoplasia, incomplete formation of the skin and muscles of the face. Abnormal ear development is a prominent characteristic of this condition. The ears can be smaller than average, called microtia, or absent, called anotia.

Birth defects of the eye area are also an extremely common characteristic. Eyeball cysts are routinely encountered in this syndrome, and some patients may have tissue missing from the upper portion of the eyelid. Goldenhar syndrome may also cause deformation of the corners of the mouth and mouth opening, which can lead to problems with speech.

It has not yet been determined if actions by the mother during pregnancy can directly or indirectly lead to Goldenhar syndrome. There are some physicians, however, who believe that the lifestyle of the pregnant woman may lead to incomplete child development. Exposure to certain toxins and chemicals may also result in the development of Goldenhar syndrome.

Diagnosis of Goldenhar syndrome involves a thorough physical examination of the affected individual. An ultrasound scan or x-rays may also be used in diagnosis, and can assist in identification of internal abnormalities. Unfortunately, there is no genetic test available that can properly diagnose Goldenhar syndrome.

Treatment of Goldenhar syndrome generally involves the correction of the various symptoms present. Hearing-related problems can be alleviated by a hearing aid, corrective dental procedures can be used to assist in dental irregularities, and speech difficulties may be improved by speech therapy. Plastic surgery is also used as a restorative treatment in some instances, and can vary from simple cosmetic procedures to more invasive surgeries for severe cases. The prognosis for Goldenhar syndrome is usually excellent, and individuals affected by this condition generally are able to live and function normally.