Everything Patients Need To Know About 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.

Continue reading to learn about how doctors reach a diagnosis of Goldenhar syndrome.