About the Goldenhar syndrome

Goldenhar syndrome: what is it?

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.

What are the symptoms of Goldenhar syndrome?

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:

  • Underdeveloped jaw or jawbone, making the face uneven.
  • Ear malformations that can cause hearing difficulties and eye problems, like cysts.
  • Spine abnormalities.

What are the causes of Goldenhar syndrome?

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.

Can Goldenhar syndrome be cured?

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.

Goldehar syndrome: frequently asked questions (FAQs)

Can you test for Goldenhar syndrome?

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.

How can the Goldenhar syndrome be prevented?

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.

What is the life expectancy with Goldenhar syndrome?

The life expectancy of someone with Goldenhar syndrome varies based on the severity of their symptoms. Many individuals lead fulfilling lives without significant restrictions, and even with treatment, it's entirely possible to enjoy a completely normal life.

Which conditions share the same symptoms?

Several disorders can share symptoms with Goldenhar syndrome, including:

  • Branchiootorenal syndrome. A syndrome that affects the branchial arches, causes hearing problems (like ear deformities and deafness) as well as kidney abnormalities.
  • CHARGE syndrome (also known as CHARGE Association). A rare genetic disorder with various issues, including ear, heart, genital, and urinary abnormalities, along with growth and developmental delays.
  • Townes-Brocks syndrome. This syndrome is known for outer ear malformations, deafness, hand abnormalities, and anal malformations.
  • Treacher Collins syndrome. A rare genetic disorder that causes distinct facial deformities and abnormalities.
  • VACTERL association. An extremely rare condition that involves the simultaneous presence of multiple specific congenital malformations.
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