Pediatric Goldenhar Syndrome (Oculo-Auriculo-Vertebral Dysplasia (OAV))

Pediatric Goldenhar Syndrome (Oculo-Auriculo-Vertebral Dysplasia (OAV))

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Summary

Pediatric Goldenhar syndrome is a congenital (present at birth) defect that causes facial and spine abnormalities.  

Expanded overview

Babies born with Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia (OAV), typically have birth defects that impact only one side of the face or the spine. This will include noticeable differences in the chin, ears, eye, mouth and spine.

Causes

The exact cause of Goldenhar is unknown, but it is thought that a genetic mutation occurs sometime during development in the womb. It is not normally hereditary – only 1 to 2 percent of all children will inherit it from a parent.

Symptoms

Symptoms of a Goldenhar syndrome include:

  • Anophthalmia (missing eye)
  • Benign (noncancerous) eye tumors or cysts
  • Fused spine
  • Hemifacial microsomia (underdeveloped cheek and jawbones)
  • Incomplete or delayed growth
  • Kyphosis (the back rounds forward)
  • Missing or fused ribs
  • Microtia (partially formed ear) or anotia (missing ear)
  • One corner of mouth may be higher than the other
  • Organ and central nervous system damage (heart, kidneys, lungs, nerves and tissues)
  • Reduced lung function from the curving spine or abnormal growth (thoracic insufficiency syndrome)
  • Scoliosis (curving of the spine) (occurs in 50 percent of Goldenhar cases)

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