Everything Patients Need To Know About Goldenhar Syndrome

Diagnosing Goldenhar Syndrome

Doctors diagnose Goldenhar syndrome by identifying the characteristic symptoms previously mentioned. They go about doing this by conducting a physical examination as well as specialized testing. Specialized tests for this condition include obtaining x-rays of bones, magnetic resonance imaging (MRI) to obtain detailed images of organs and other body structures, and a computed tomography (CT) scan, which combines computer technology and x-rays to produce cross-sectional images of the body. Doctors may also require genetic testing to rule out any potential conditions with similar markers. Additionally, many doctors use an ultrasound, typically used to track fetal development, to detect organ abnormalities, particularly on the heart and kidneys. Finally, should the patient exhibit signs of hearing or vision loss, doctors will also use hearing and vision tests to assess the extent of the issue.

Beyond providing a detailed diagnosis of Goldenhar syndrome, the results of these medical tests are key for doctors to develop an individualized plan for treating and managing the patient’s condition. Speaking of treatment, continue reading to see what it entails for Goldenhar syndrome.