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Goldenhar Syndrome

Written by Dr.Mary

What is Goldenhar Syndrome?

There are various congenital defects that affect children and one of this is the Goldenhar Syndrome otherwise known as Oculo-Auriculo-Vertebral Syndrome or Hemifacial microsomia which was first recorded last 1952 by Dr. Maurice Goldenhar, a French ophthalmologist and his colleagues.


A classic triad of facial asymmetry, ear and/or eye problems and vertebral deformities are found in children with Goldenhar syndrome. This rare congenital defect affects mainly one side of the face (muscles and bones), the palate, eyes, ears and the vertebral column and in severe forms may include kidney and heart dysfunctions. One of the differential diagnosis for Goldenhar Syndrome is the Treacher Collins Syndrome which also has the same presentation with Goldenhar syndrome but more on bilaterally. Generally, OAV does not affect the cognitive development of the child and have normal intelligence though a little percent may have mild mental retardation.

Goldenhar Syndrome Symptoms

Goldenhar Syndrome physical abnormalities maybe first detected by doctors through ultrasound before the child is born. Unfortunately, there is no standard laboratory or genetic test used to determine this condition. The following are the physical changes seen on children with Goldenhar Syndrome and these becomes more evident as the child grows:

  • Usually affect one side of the face or in rare cases both side of the face
  • Hydrocephaly or microcephaly
  • Cleft palate and cleft lip
  • Overly developed or fused vertebra
  • Scoliosis leading to restrictive lung disease
  • Abnormally small ear (microtia) or absent one ear (anotia)
  • A soft white or yellow nodule located in the eye
  • Hearing problems (sensorineural or conductive hearing loss due to absence of ear canal)
  • Underdeveloped jaw and facial muscles
  • Facial weakness and asymmetry
  • Skin tags around the ear (preauricular tags)
  • Abnormally small eye or absent eye on one side
  • Strabismus
  • Others may present with mental retardation or learning difficulties due to hearing problems
  • In severe cases, heart and kidney dysfunctions
  • Obstructive sleep apnea

Goldenhar Syndrome Causes

The cause of Goldenhar Syndrome is still unknown but higher incidence of this condition was reported to have occurred on babies born from Gulf War Veterans but this does not give a conclusive and concrete study. This condition is often linked to pregnant women who were exposed to other harmful chemicals. According to studies, the congenital deformities have no direct relationship with the intake of medicines during pregnancy. Another considered factor is genetics but there was no specific gene identified to be directly related to Goldenhar Syndrome, thus this condition has a little probability to be inherited. Others point to vascular problems or cessation of blood supply to the fetus which causes hypoxia to the developing organs leading to underdeveloped one side of the face and spine. Other medical professionals linked this to environmental factors and lifestyle of the mother during pregnancy.

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This occurs in one of every 3000-5000 born babies. There is no pattern for this disease but commonly affect male babies of different races.

Goldenhar Syndrome Treatment

Treatment of Goldenhar Syndrome usually starts at an early age and covers a wide intervention since multiple systems and organs are involved. Family support is an important component during the treatment phase. The physical birth defects can be treated with medical intervention and corrective surgery through multidisciplinary approach. Early surgical intervention will help prevent and improve the function of the child. Craniofacial surgeon is required for the reconstruction and correct alignment of the jaw and orthodontist for the teeth development. A nutritionist must be consulted for the food diet since most of the child will be underweight due to dental problems and jaw malalignment. Hearing test should be done in an early age to know the extent of hearing loss. Vertebral X-ray to continue monitor the vertebral growth and development and to provide corrective braces for scoliosis. Ultrasound of the kidney and heart since this areas may be affected. Eye specialist must be consulted for several eye related problems. A parent may enroll the child to a sign language school to improve communication.

Goldenhar Syndrome Prognosis

Several consequences will occur if this condition is left untreated. The prognosis of child with Goldenhar Syndrome depends on the severity of the condition and its complications, otherwise, the child has a normal life expectancy and able to live and perform activities of daily living normally or some children uses assistive device such as hearing aids and eye glasses.

Goldenhar Syndrome Pictures

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