Prenatal Testing for Goldenhar Syndrome

Goldenhar Syndrome is a condition which results in facial deformities in babies. The ears and jaw are the main parts to be affected as well as the eye sockets. Typically, the ears appear to be very small or misshapen and the muscles of the face are underdeveloped or incompletely developed (a condition known medically as hypoplasia). Often incongruence in structure and shape between the upper jaw and lower jaw cause dental problems and may affect speech and swallowing. The condition is prevalent in males (around 70% of suffers are in fact male).

Prenatal testing for Goldenhar Syndrome

Prenatal diagnosis of Goldenhar Syndrome is possible with considerable accuracy using ultrasonography. Asymmetrical facial features may indicate the condition. Oculoauriculovertebral dysplasia can be diagnosed in a fetus at 15 weeks’ gestation. The condition is not believed to be hereditary although some studies have shown a familial relationship which suggests there is a hereditary component to the condition. Because no specific genes have been linked to this condition, prenatal DNA testing cannot be used to diagnose the condition.

Other Names for condition include:

  • oculo-auriculo-vertebral spectrum (OAVS)
  • Goldenhar-Gorlin syndrome or
  • facio-auriculo-vertebral dysplasia

The condition can be of two types, depending on whether the effects remain localized to facial deformities or whether malformations affect other parts of the body.

  • Hem-facial microsomia refers to when the syndrome only affects the face – namely the ears and the jaw. This terms in such cases is the correct term to use in place of Goldenhar Syndrome
  • Goldenhar Syndrome refers to a combination or a triad of anomalies which includes both the facial deformities mentioned above as well as malformations of the vertebra in the neck region. This is sometimes referred to as ‘oculoauricular vertebral dysplasia’

The condition does not affect the brain and children with Goldenhar Syndrome are of normal intelligence. Maxillofacial surgery and other types of surgery may help improve the jaw.

About the author:

Karl M McDonald is a freelance writer specializing in the field of DNA testing genetics. More articles by the same author can be found in the article repository for:

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