Goldenhar Syndrome

Goldenhar syndrome is an unusual hereditary disorder which causes formation of abnormal ears, eyes, the mandible, nose, and lips.This type of disorder is also called as ‘Oculo-Auriculo-Vertebral (OAV) syndrome’ and it causes abnormal formation of 1st and 2ndbranchial archas well.The defects result in difficulties in opening the mouth, leading to other problems related to communication and the hemivertebrae. The symptoms are not the same in all patients; they change from person to person and the signs can be mild or severe. However, this syndrome is rare and occurs with a frequency of one in every 3,000-5,000 live births. Females are less affected than males.

Symptoms of Goldenhar syndrome

Some of the signs and symptoms of Goldenhar syndrome are as follows:

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  • Cheekbones, facial muscles, and organs like the heart and kidneys may not be fully developed
  • Tiny, deformed, or absent ears
  • Abnormal upper jaw
  • Deafness in one or both ears
  • Blindness in one or both eyes
  • Eye problems, which may consist of small openings, slow growth, crossed eyes, and absent upper eyelid tissue
  • Underdeveloped, absent or fused vertebrae
  • Lung defects
  • Incomplete development of the ear, nose, soft palate and lip
  • severe scoliosis
  • Limbal dermoids and hearing loss
  • Incomplete development of the mouth may lead to speech problems, lack of saliva, etc.
  • Abnormal ribs

Causes of Goldenhar syndrome

The root cause of Goldenhar syndrome is not known. Still, it is believed that a genetic factor may be involved. The reason for occurrence of Goldenhar syndrome is due to bursting of a developing blood vessel in the infant’s face. This may happen by chance leading to health problems like slowing down of the flow of blood to any one side of the face, thereby obstructing normal growth. Another factor that can prevent normal growth is development of blood clots groups. There may be few environmental reasons also; but not much proof is available. Goldenhar syndrome is visible amongst the childrenof those people who took part inthe Gulf War. Although the evidence is incidental, the syndrome seems to have a higher incidence in the offspring of veterans who participated in the Gulf War. The elevated occurrence of Goldenhar syndrome in the children of Gulf War soldiers may have led to it being suggested as a possible risk factor. However, this distinctionas per statistics proved to be insignificant. Some other causes that health centers suggest include the following:

  • Some physicians believe that the posture of a pregnant woman when doing various activities may hamper the development of the baby.
  • The locality and surrounding where the woman is living also has an effect on the developing baby.
  • Medical experts also feel that the physical condition of the woman also may cause this syndrome. For example, the way the family members and husband deal with her.
  • Woman exposed to some chemicalsmay also carry the risk of giving birth to a child with this disorder.

Diagnosis of Goldenhar syndrome

Goldenhar syndrome causes visible deformities. Therefore, the 1st step in diagnosing this syndrome is complete physical examination of the patient.Besides the physical tests, ultrasound scan and x-ray may also assist in identifying any health problems linked with Goldenhar syndrome. The presence of facial or skeletal issues can also be detected with the help of prenatal diagnosis.

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Treatment of Goldenhar syndrome

Many features have to be evaluated in order to form the most successful treatment plan for Goldenhar syndrome. The following issues have to be studied so as to give the best possible treatment:

  • The child’s basic formations and functions that have been affected
  • Different areas such as the brain, facial skeleton, cervical vertebrae, and the nervous system have to be examined carefully.
  • Simple activities like swallowing, breathing and speaking; how these functions are being affected due to the disorder
  • Evaluation of anatomical and functional problems

A complete study of all the above listed options will assist in planning a correct and prompt treatment. Surgeries are conducted as per the maturity level of the infant. Parents and family members have to play a vital role throughout the treatment plan (like surgeries), changes in appearance,and progress in academic and every day skills. Some of the treatment options include:

  • Treatment is mostly limited to such surgical intervention as may be essential for the development of the baby. For example, bone grafting, repair of the lip, cleft palate reconstruction,correction of heart abnormalities, occular dermoid debulking, and spinal surgery.Sometimes,plastic surgery may be employed to correct varied associated defects that range from cosmetic to severe, like the use of crutches, ocular problems, etc.
  • Hearing aids may be required to be fixed in the ears.Some affected people may need help as they grow up with the aid of eye-glasses or hearing aids.
  • Application of speech therapy for speech problems
  • In case of dental problems, corrective dental treatments can be used.
  • Therapies for improvement of other physical problems

The aim of the treatment is to make the child’s brain and all other body organs grow and develop, so as to facilitate ease of important activities like breathing, eating, sleeping, and communicating. The goal of the treatments is to make the child independent, as far as possible.

Goldenhar Syndrome Pictures

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