Goldenhar Syndrome – Pictures, Symptoms, Deformities, Treatment


What is Goldenhar Syndrome?

Goldenhar syndrome is a congenital problem connected with head and spinal cord deformities. Head deformities can affect the eyes, ears, face and mouth. These various deformities can also differ greatly in the degree of seriousness. The precise etiology of Godenhar syndrome has still not been identified yet.

What are the Symptoms of Goldenhar Syndrome

The deformities associated with Goldenhar syndrome are usually restricted to the head and spine. About 30% of people who have Goldenhar syndrome suffer from bilateral facial deformities. In these cases, the right lateral part of the face is typically affected more seriously.

The symptoms of Goldenhar syndrome can be very different. Several people suffering from Goldenhar syndrome can have serious deformities, whereas others may show few or minor congenital deformities.

Facial Deformities

Hemifacial microsomia is a common facial abnormality found in Goldenhar syndrome. It is brought about by hypoplasia or underdevelopment of the facial bones: the mandible and the maxilla. Additionally, the facial muscles might also be underdeveloped. Another facial abnormality is the occurrence of cleft lip and palate. Cleft lip is an unusual opening or split in the lip area that can spread to the nose or cheek. Cleft palate is an opening in the roof of the mouth. People suffering from Goldenhar syndrome might also have macrostomia, commonly known as ‘wide mouth’.

Eye Deformities

Congenital deformities of the eye are common in Goldenhar Syndrome. Epibulbar (cysts in the eyeball) are commonly seen together with micropthalmia (small eyes). Several people who have Goldenhar syndrome may suffer from coloboma (missing tissue from the upper eyelid). Strabismus (crossing of the eyes) is also a common occurrence.

Ear Deformities

Deformity of the ears is another sign of Goldenhar. The ears may appear smaller than normal (microtia), or in some cases they may be absent (anotia). Ear tags or additional pieces of skin may be found on the cheek, close to the ear, and may spread to the corners of the mouth. The shape of the ears may also be abnormal. Loss of hearing is a typical problem for people suffering from Goldenhar syndrome.

Spinal Deformities

The spinal deformities associated with Goldenhar syndrome are brought about by underdevelopment of the spine. The spine may be partially developed (mivertebrae), absent or fused. The ribs can also be deformed as a result. About 50% of people who have Goldenhar syndrome have scoliosis (spinal curvature).

Other abnormalities aside from facial and spinal can also be present in Goldenhar syndrome. About 15% of people who have Goldenhar also suffer from delays in mental development, or mental retardation. The probability of mental retardation increases if the person has microphthalmia. Heart and kidney abnormalities can also occur.



How is Goldenhar Syndrome Treated?

Once a person is confirmed to have Goldenhar syndrome, more examinations will normally be necessary. These typically include:

  • Hearing test: to assess if there is any loss of hearing. If there is evidence of hearing loss, the person should consult a hearing expert.
  • Speech testing and therapy may also be recommended if necessary.
  • Spinal X-rays: to assess if spinal deformities are present.
  • Regular examination for Scoliosis.
  • Kidney and heart ultrasounds may be recommended because of the heightened risk of congenital deformities.
  • Eye test: examination by an eye specialist or ophthalmologist to establish if any vision impairment exists.

Surgery may be needed to fix any congenital deformities found in Goldenhar syndrome patients. Surgery to fix any facial congenital deformities can enhance the look and performance of the affected area.

Prognosis

The outlook for people who have Goldenhar syndrome is excellent. These people usually go on to lead a full and normal life.

Goldenhar Syndrome Pictures

Goldenhar Syndrome facial pictures

Eye and ear deformities pictures

Goldenhar Syndrome eye problems

Goldenhar syndrome eye deformities (clear view)

Goldenhar Syndrome cleft lip pictures

Cleft lip in goldenhar syndrome people

Goldenhar Syndrome dental problems

Dentition deformities pictures

Also read - Latest Treatment Modalities for Goldenhar Syndrome

Edited and Proofreaded by Chris on 30/08/2012



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8 Responses to “Goldenhar Syndrome – Pictures, Symptoms, Deformities, Treatment”

  • Jetters Mommy says:

    My son has Goldenhar and it has been a long, uphill battle for the last 22 months, with so much farther to go. It’s so difficult and heartbreaking to watch him suffer. He is nothing short of a miracle, especially being the only surviving triplet. He beings so much joy to the lives of everyone around him and he is loved beyond measure!

    • Momma Hay says:

      Jetters Mom, Jett has come a long way, especially after being treated for failure to thrive at Childrens Hospital. He is a very perfect, active and loving baby! I know…..since I am his Nana! Jett has great parents who will always be there for him…………………..

  • Jetters Mommy says:

    he *brings* so much joy :)

  • [...] Goldenhar syndrome pictures usually reveal malformations on the face. Pictures below characterize a person with Goldenhar syndrome. [...]

  • Zabeeda Kalloo says:

    I have a son 13years old he has partial goldenhar syndrome. He went throw so much and now he is ok. He not talking as yet making a few words.He is handsome and he know everythings and he does 95% of the things you told him to do. I am blessed with him.

    • Kesinee says:

      I know what you feel Zabeeda. I also have a child with golden har syndrome and I feel that they don’t give less joys than other children. In fact, they remain special even if they grow old. I am just thankful that my child has grown up to be an intelligent boy.

  • Cheri Yerkes says:

    My daughter at birth was diagnosed with Goldenhar Syndrome. She has undergone ear tag removal, spinal fusion, cranial reconstruction, sub mucus cleft palate repair, 3 stage ear reconstruction & wore braces on her teeth for 5 years! She has bilateral ear deformities & severe hearing loss, scoliosis, congenital fusions of spine & neck, ectopic kidney, mild facial asymmetry, small stature. At 13 she was diagnosed with Aspergers Syndrome. Now at 16 she has been diagnosed with MRKH Syndrome with a long road ahead. Is there any known connection with these syndromes? Are we the only ones out there dealing with all THREE? Thank you for your help and guidance in pointing us in the right direction and possibly helping us find someone else like us!

  • Robin Long says:

    My Delores is 6yrs old now and has had a ruff six years. She started out a fighter and to this day still is. We have gone through several surgeries throughout her little life and still have a few more to go. She doesn’t understand whats wrong with her and it doesn’t bother her that other kids stare at her she just smiles and goes on. Her brother doesn’t like it but he has learned to ignore them. We have never treated her any different from the other kids and they treat her like a normal child. We have always been told that god gave us a special child cause he knew that we could take care and love her like a normal child with no health issues. I have never opened up and spoke about her to any body but family and close friends but i am glad that there are places like this to turn to.


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