How long do people with Goldenhar syndrome live?

It’s a craniofacial condition, meaning it affects the development of your face and skull. Most babies with the condition have hemifacial microsomia and underdeveloped bones and muscles in one side of their face. With treatment, most children with Goldenhar syndrome live a relatively normal lifespan.

Does Goldenhar syndrome affect the brain?

Goldenhar syndrome may also affect the face and other body organs, such as heart, kidney, lungs and nervous system (the brain, spinal cord and nerves working together). In most cases, the deformity only affects one side of the body.

Can Goldenhar syndrome be cured?

Goldenhar syndrome cannot be cured. Treatment is focused on helping people live their best life possible with the disease. This can include speech therapy, treatments to address feeding difficulties, hearing and vision problems, heart surgery, ear reconstruction, and jaw surgery.

What are symptoms of Goldenhar syndrome?

Symptoms of Goldenhar syndrome can vary, but may include one or more of these features:

  • Spinal abnormalities, leading to scoliosis, kyphosis or both.
  • Abnormal rib structure including missing or fused ribs, leading to poor growth, thoracic insufficiency and diminished lung function.

Is Goldenhar syndrome a disability?

Approximately 15% of individuals with Goldenhar syndrome have an intellectual disability. The likelihood for an intellectual disability increases if the individual has microphthalmia. Heart defects and kidney defects can also occur with Goldenhar syndrome.

How is Goldenhar diagnosed?

Diagnosis of Goldenhar syndrome When it is diagnosed, the child usually needs to have further tests, such as hearing and vision tests. A doctor may also take an X-ray of the spine to check for problems with vertebrae. To look for heart or kidney problems, a doctor may order ultrasound imaging tests of those organs.

How is Goldenhar syndrome treated?

Treatments for Goldenhar syndrome In some mild cases, no treatment is needed. Children may need to work with a hearing specialist or speech therapist for hearing issues, or may need a hearing aid. If there are vision problems, corrective surgery or glasses may be needed.

Can you detect Goldenhar syndrome before birth?

Goldenhar syndrome is a rare birth defect with unknown aetiology. Prenatal suspicion is possible but no genetic diagnosis is yet available. The prognosis depends on the presented malformations and association with systemic defects. Multidisciplinary evaluation is essential to reach this challenging clinical diagnosis.

Is Goldenhar syndrome rare?

Goldenhar syndrome is a rare disorder that affects the formation of the skull, head, and face. The syndrome is congenital, which means it is present at birth. Another name for this disorder is oculoauriculovertebral dysplasia. Goldenhar syndrome affects one out of every 3,500 to 25,000 children at their time of birth.

Can Goldenhar syndrome be seen on ultrasound?

Conclusions: Goldenhar syndrome is a rare abnormality which could be diagnosed prenatally using non-invasive imaging methods as ultrasound scan and MRI.

How does Goldenhar syndrome cause hearing loss?

In addition there may be a missing or undersized ear canal (congenital aural atresia). If the ear canal is missing, the result is a significant conductive hearing loss, because the bone blocks the passage of sound to the eardrum and inner ear.

Is Goldenhar syndrome progressive?

In the present case of Goldenhar syndrome, the scoliotic deformity was progressive but Cobb angle was not severe. Furthermore, the deformity was not congenital and no hemivertebra or vertebral abnormalities were detected.