Everything Patients Need To Know About Goldenhar Syndrome

When it comes to congenital health conditions, most individuals have never heard of Goldenhar syndrome, sometimes referred to as oculo-auriculo-vertebral spectrum, before. This is no surprise, as reports indicate it is quite the rare condition and only occurs once in every 3,500 births or even just once in every 26,000 births. This condition is named after Maurice Goldenhar, an ophthalmologist and general practitioner, who discovered it in 1952. Although Goldenhar syndrome is a rare congenital condition, given the lack of knowledge about this condition, it is critical for patients to obtain as much information as possible to be better prepared to deal with it. With this in mind, here is everything patients need to understand about Goldenhar syndrome, from the causes to the outlook for those living with the disease.

Underlying Causes

When it comes to any health condition, both permanent and temporary, one piece of information just about everyone wants to know is what causes the issue in the first place. Most would agree this plays a significant role in determining how to cure the condition. Unfortunately, research has not revealed a definite cause of Goldenhar syndrome and most cases of this condition appear at random with no clear explanation. Some experts have suspicions that blood flow or similar interruptions during fetal development play a significant role in Goldenhar syndrome, but it is still unclear. Furthermore, there is no definitive answer as to how big of a role genetics play, since research shows just one to two percent of patients have other family members with Goldenhar syndrome.

Identifying The Symptoms

Though they are easier to identify than the cause, symptoms of Goldenhar syndrome do vary between patients. Typically, this condition only affects one side of the patient’s face, but ten to thirty-three percent of patients have both sides involved.

The most common symptoms of Goldenhar syndrome include ear abnormalities such as microtia, which is a partially formed or missing ear, a cleft lip, cleft palate or even both, underdeveloped facial muscles, and an underdeveloped jaw, cheek, or temple bones. Other indicators of this disease are eye abnormalities, dental abnormalities, such as an unusually small or large mouth, vision loss, and hearing loss. Potential eye abnormalities include anophthalmia, the absence of one or both eyes, and microphthalmia, where one or both eyes are abnormally small. Patients with Goldenhar syndrome may also experience heart, lung, and kidney problems, as well as limb malformations, spinal abnormalities, and hydrocephalus, though these are less common.