Goldenhar syndrome is a rare congenital condition that affects the head and spine. It can cause physical abnormalities in the eyes, ears, and lips, and can lead to speech problems. The cause is unknown, but treatment can involve hearing aids, dental procedures, speech therapy, and plastic surgery. The prognosis is generally good.
Goldenhar syndrome, also known as Goldenhar-Golin syndrome and oculo-auriculo-vertebral (OAV) syndrome, is a rare congenital condition that has deformities in the head and bones of the spine. First discovered in 1952 by Dr. Maurice Goldenhar, individuals 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 may be seen bilaterally or on both sides of the face, while other cases show 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 may 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 feature of this condition. The ears may be smaller than average, called microtia, or absent, called anotia.
Congenital defects of the eye area are also an extremely common feature. Cysts of the eyeball are usually encountered in this syndrome and some patients may have tissue missing from the upper eyelid. Goldenhar syndrome can also cause the corners of the mouth and the mouth opening to become deformed, which can lead to speech problems.
It has not yet been determined whether the mother’s actions during pregnancy can directly or indirectly lead to Goldenhar syndrome. There are some doctors, however, who believe that the pregnant woman’s lifestyle can lead to incomplete development of the baby. Exposure to certain toxins and chemicals can also lead to the development of Goldenhar syndrome.
Diagnosing Goldenhar syndrome involves a thorough physical examination of the affected individual. An ultrasound or x-ray can also be used in diagnosis and can aid in the identification of internal abnormalities. Unfortunately, there is no genetic test available that can correctly diagnose Goldenhar syndrome.
Treatment of Goldenhar syndrome usually involves correcting the various symptoms present. Hearing-related problems can be relieved by a hearing aid, corrective dental procedures can be used to help with dental irregularities, and speech difficulties can be improved by speech therapy. Plastic surgery is also used as a restorative treatment in some cases and can range from simple cosmetic procedures to more invasive surgeries for severe cases. The prognosis for Goldenhar syndrome is generally excellent, and individuals with the condition are usually able to live and function normally.
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