Goldenhar syndrome is a rare congenital condition, where the bones and muscles in your face are underveloped in one or both sides. It can also lead to issues with your ears, eyes, and spine. This condition got its name from the researcher who first spotted it back in 1952.
Goldenhar syndrome goes by other names like oculo-auricular-vertebral dysplasia or hemifacial microsomia. It typically manifests in one of three ways, affecting only one side of the face or body:
Experts are still uncertain about the exact cause of Goldenhar syndrome. It's a rare condition, affecting somewhere between 1 in 3,500 to 1 in 25,000 newborns, with a slightly higher occurrence in males.
The causes are thought to be a mix of various factors, both genetic and environmental. While most cases happen spontaneously, about 2% of cases may have a family connection, possibly coming from one or both parents. Some research suggests that certain medical conditions or factors can increase the risk of developing Goldenhar syndrome, like gestational diabetes or the use of a drug called retinoic acid, which is commonly used to treat acne.
Currently, there's no one-size-fits-all cure for Goldenhar syndrome. The treatment plan depends on the specific conditions, their severity, and how they affect the individual. In mild cases, especially in children, treatment may not be needed.
However, for more complex situations, the approach can vary to meet the patient's needs. Issues like skull malformations, eye problems, and spineabnormalities might require different types of interventions, including surgery. Hearing problems can be managed with hearing aids or specialised devices. Feeding difficulties might call for special feeding bottles or even direct nutrient intake into the stomach. And if there are speech problems, speech therapy can be quite helpful.
Diagnosing Goldenhar syndrome in children relies on identifying its characteristic physical symptoms. Ear abnormalities play a crucial role in confirming the diagnosis, although there are no specific tests to definitively confirm it. However, genetic tests can help rule out similar conditions, and additional tests, like CT scans, echocardiograms, electrocardiograms, eye exams, ultrasounds, X-rays, and sleep studies, can be used to support the diagnosis.
Prenatal diagnosis of Goldenhar syndrome is rare, but certain changes in the jaw, ear, or mouth might be observed during fetal ultrasound scans.
Right now, there's no way to prevent Goldenhar syndrome, mainly because we're not entirely sure what causes it. But during pregnancy, it's crucial to stick to your doctor's advice and follow standard practices.
If you have a family history of Goldenhar syndrome, genetic testing and counseling can offer insight into the chances of the disorder occurring.
Several disorders can share symptoms with Goldenhar syndrome, including:
