Goldenhar syndrome

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What is Goldenhar syndrome?

Goldenhar syndrome is an uncommon congenital condition characterized by underdeveloped bones and muscles in one or both facial regions, often accompanied by malformations of the ears and eyes, as well as abnormalities in the vertebrae. The syndrome is named after the researcher who initially identified it in 1952.

What are Goldenhar syndrome's symptoms?

Goldenhar syndrome is also known as oculo-auricular-vertebral dysplasia or hemifacial microsomia. There are 3 main symptoms and they can affect only one side of the face or body:

  • reduced development of the jaw or jawbone, causing asymmetry of the face;
  • malformations of the ear with difficulty in hearing and problems that also affect the eye, with the appearance of cysts;
  • abnormalities of the vertebrae.

What are Goldenhar syndrome's causes?

For experts, the cause of Goldenhar syndrome is still unclear. It is a rare disease, affecting between 1 in 3,500 and 1 in 25,000 newborns, with a slightly higher percentage in males. 

The underlying causes are believed to be multifactorial, involving a complex interplay of genetic and environmental factors. While most cases are sporadic, approximately 2% of instances are familial in origin, potentially stemming from one or both parents. Research suggests that certain medical conditions or factors may heighten the risk of developing Goldenhar syndrome. These include conditions like gestational diabetes and the use of retinoic acid, a common acne treatment drug.

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Goldenhar Syndrome treatment

Currently, there is no definitive cure for Goldenhar syndrome, and treatment strategies are tailored to the specific conditions, the severity of malformations, and their nature. In cases where Goldenhar syndrome is mild, especially in children, treatment may not be necessary.

However, if the situation is more complex, the approach may vary according to the patient's needs. Skull malformations, eye irregularities and vertebral abnormalities may require various types of intervention, including surgical procedures. Hearing impairments can be addressed with the assistance of hearing aids or specialised devices. Feeding difficulties might require the use of special feeding bottles or even direct nutrient intake into the stomach. Speech disorders can benefit from speech therapy sessions.

FAQs about the Goldehar syndrome

How is Goldenhar syndrome diagnosed?

The diagnosis of Goldenhar syndrome in children is based on the presence of the physical symptoms that characterise it. Amongst others, ear abnormalities are essential to consolidate the diagnosis, but there are no actual tests to confirm it. However, genetic tests can be performed to rule out certain diseases that have common features with this disorder, and additional tests can be used to corroborate the diagnosis, such as CT, echocardiogram or electrocardiogram, eye examinations, ultrasounds, X-rays and sleep studies.

Goldenhar syndrome is rarely diagnosed prenatally, but changes in the jaw, ear or mouth may possibly be noted during ultrasound imaging of the foetus.

How can I prevent Goldenhar syndrome?

At present, it is not possible to prevent Goldenhar syndrome, partly because the causes of the disorder are not fully known. However, it is important to follow good general practices and your doctor's instructions during pregnancy.

If there is a family history of Goldenhar syndrome, genetic testing and counselling can help to understand the likelihood of the disorder occurring.

Does Goldenhar syndrome affect life expectancy?

Goldenhar syndrome life expectancy varies depending on the severity of the symptoms: many people live a full life without major limitations and even after treatment, it is possible to live a perfectly normal life.

What disorders have similar symptoms?

Many disorders may have symptoms similar to those of Goldenhar syndrome, such as: 

  • Branchiootorenal syndrome: characterised by abnormalities of the branchial arches, hearing defects (such as ear deformities and deafness) and kidney abnormalities.
  • CHARGE syndrome (also known as CHARGE Association): a rare genetic disorder with ear, heart, genital and urinary abnormalities and growth and developmental delay.
  • Townes-Brocks syndrome: syndrome characterised by malformations of the outer ear, deafness, abnormalities of the hands and malformations of the anus.
  • Treacher Collins syndrome: rare genetic disorder causing specific facial deformities and abnormalities.
  • VACTERL association: a very rare condition with simultaneous presence of several specific congenital malformations.

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