Goldenhar Syndrome

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• QWhat is Goldenhar syndrome?

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  A Reston Hospital Center answered

  Goldenhar syndrome is a birth defect that causes abnormal growth of tissue and bones in the face and skull. Symptoms usually affect one side of the face, although they can affect both sides. A common symptom is one ear that is underdeveloped or missing. Other symptoms range in type and severity and may include:

  cleft lip, cleft palatebenign growths around and/or on the eyes (epibulbar dermoids)an underdeveloped or missing eyedeformed upper and/or lower jawfused bones in the neck

  Although the exact cause is unknown, environmental factors, genetics, or a combination of both of these influences may increase the risk of a fetus developing Goldenhar syndrome.

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• QWhat causes Goldenhar Syndrome?

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  A Reston Hospital Center answered

  The exact cause of Goldenhar syndrome is unknown. It is a birth defect and like other birth defects it's believed to be influenced by environmental factors such as such as exposure to alcohol, certain medications, diseases, infections, or poor diet. For example, low folic acid levels during a women's pregnancy have been linked to children born with a cleft palate and/or cleft lip; two symptoms that can occur with Goldenhar syndrome.
  The majority of cases occur randomly though it has been reported in different generations within a family. Abnormal genes passed from one or both parents may be responsible. In other cases, it is thought to be caused by a lack of blood to the fetus at some point during its development.

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• QWhat are common symptoms of Goldenhar syndrome?

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  A Reston Hospital Center answered

  Goldenhar syndrome causes abnormal growth of tissue and bones in the face and skull. Symptoms range in type and severity and may include:

  • underdeveloped or missing outer ear tissue
  • cleft lip, cleft palate
  • benign growths around and/or on the eyes (epibulbar dermoids)
  • an underdeveloped or missing eye
  • deformed upper and/or lower jaw
  • fused bones in the neck

  Symptoms usually affect one side of the face although can affect both sides.

• QHow does Goldenhar syndrome affect the body?

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  A Reston Hospital Center answered

  Goldenhar syndrome affects the tissues and bones in the face and skull. Facial features, including the ears, eyes, mouth, cheeks, and jaw do not grow normally during fetus development. Facial features may appear lower or higher on one side of the face. Both sides of the face and skull can also be affected in varying degrees. In some cases the nerves in the face may be slightly paralyzed causing a crooked smile, and bones in the vertebrae may be fused. Without treatment, symptoms will be more pronounced as the child grows.

• QWhat increases the risk for Goldenhar syndrome?

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  A Reston Hospital Center answered

  The exact cause of Goldenhar syndrome is unknown. Factors believed to increase the risk of a fetus developing Goldenhar syndrome are related to many pregnancy issues such as :-  poor diet during pregnancy

  -  vitamin deficiencies (low folic acid levels) during pregnancy

  -  infection, disease, or exposure to toxins during pregnancy

  -  lack of blood to the fetus (vascular)

  -  abnormal gene passed from one or both parents

   

  A healthy, balanced diet and limiting exposure to toxic environmental influences is believed to help decrease the risk of your child being born with a birth defect such as Goldenhar syndrome.

   

• QHow is Goldenhar syndrome diagnosed?

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  A Reston Hospital Center answered

  Prenatal ultrasounds are sometimes used to detect early signs of Goldenhar syndrome. At birth, a physical examination, x-rays, computer tomography scan known as a CT scan, as well as, reviewing the family medical history can help doctors diagnose Goldenhar syndrome. Your doctor may also consult with or refer you to a craniofacial specialist for further testing and diagnosis.

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• QShould I talk to my doctor about my childs Goldenhar symptoms?

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  A Reston Hospital Center answered

  If your child is born with symptoms of Goldenhar syndrome, you should talk to your doctor. Symptoms may include an irregularly-shaped skull, abnormally-shaped or missing outer ear, uneven facial features, cleft lip and/or palate, and growths on one or both eyes. It is common for newborns to have slightly elongated heads. Your doctor will be able to diagnose any symptoms that are not normal and may be symptomatic of Goldenhar syndrome.

• QWhat are the treatment options for Goldenhar syndrome?

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  A Reston Hospital Center answered

  Treatment options, including plastic and reconstructive surgeries vary because Goldenhar symptoms can vary. Depending upon the symptoms, reconstructive surgeries can help correct irregularly formed or missing facial features. Surgeries are often spread out over several months and years. Some types of surgeries needed to reconstruct the jaw or an ear will not take place until the child is older. Several surgeries may be needed.

  Surgeries often require a team of specialists to correct a specific symptom such as elongating a jaw or correcting a cleft palate.

• QHow do medications treat Goldenhar syndrome?

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  A Reston Hospital Center answered

  Medications are not used to treat Goldenhar syndrome. Surgery is often required to treat abnormal tissue and bone disorders caused by this birth defect. Talk to your doctor about medications for pain management and or pre- or post-operative care.

• QCan Goldenhar syndrome be prevented?

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  A Reston Hospital Center answered

  Eating a healthy, balanced diet may help to prevent a birth defect such as Goldenhar syndrome. Avoiding alcohol and exposure to toxins may also help to prevent a birth defect. Staying healthy and managing infections and diseases with the help of your doctor are all ways in which you can help to minimize the risk of your child being born with Goldenhar syndrome.