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Goldenhar syndrome is a congenital disorder that involves different malformations related to the parts of the face and internal organs.

What is Goldenhar syndrome?

This condition is also known as Oculo-Auriculo-Vertebral (OAV) syndrome. This disorder was first named by Dr. Goldenhar in 1952.  Goldenhar syndrome is rare birth defect characterized by abnormalities of the head (eye, lip, soft palate, nose, jaw bones and cheek bones) and the bones of the spinal column. These abnormalities can be seen on both sides of the face (bilateral) or limited to one side of the face (unilateral). Newborns with Goldenhar syndrome can have partly formed or completely absent organs like ear, eye, and nose. They may also have underdeveloped facial muscles and skin of the face, which is medically termed as hypoplasia. Macpostoma is another abnormality seen in children with Goldenhar syndrome and it featured by large corner of the mouth that extends toward the ear on one side, chin abnormality and partly developed eye. Deformation of the mouth opening can lead to speech problems and small or not completely formed spinal vertebrae on one side (hemivertebrae).

Causes of Goldenhar Syndrome

Scientists have not yet explained why Goldenhar syndrome occurs. It seems as it appears randomly without any obvious cause. Some researchers believe that this congenital disorder may occur due to certain posture or lifestyle of a woman during pregnancy. There is also possible link between Goldenhar syndrome and environmental factors such as some medications that women take while pregnant or chemical exposure in pregnancy.

Symptoms of Goldenhar Syndrome

Goldenhar syndrome is associated with the following symptoms:

  • Malformation of the mouth and lips
  • Cleft palate
  • Partially developed or absent eye or growths on the eye
  • Abnormal development of the ears or missing ears
  • Fused neck bones
  • Hearing problems
  • Dental problems
  • Problems with tongue, lack of saliva
  • Speech problems
  • Heart and kidney abnormalities
  • Curvature of the spine
  • Abnormalities of the ribs
Diagnosis and Treatment of Goldenhar Syndrome

Prenatal screening and genetic tests cannot identify presence of Goldenhar syndrome. Since the condition is characterized by facial malformations, the diagnosis can be made by physical examination of affected person. Additionally, X-ray and ultrasound imaging can help to confirm any possible problems related to internal organs such as vertebral problems, scoliosis, renal and heart problems. Treatment of Goldenhar syndrome includes surgery to improve appearance and function of facial birth defects. Speech therapy can be helpful for speech problems. Continuing dental treatment is usually necessary as children grow as well as early treatment for heart or kidney problems.

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