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.


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 images

Eye and ear deformities pictures

Goldenhar Syndrome eye photos

Goldenhar syndrome eye deformities (clear view)

Goldenhar Syndrome cleft lip photos

Cleft lip in goldenhar syndrome people

Goldenhar Syndrome dental problems pics

Dentition deformities pictures

Also read – Latest Treatment Modalities for Goldenhar Syndrome

Edited and Proofreaded by Chris on 30/08/2012

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17 thoughts on “Goldenhar Syndrome – Pictures, Symptoms, Deformities, Treatment

  • 24/03/2012 at 6:55 PM

    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!

    • 25/03/2012 at 2:53 AM

      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…………………..

  • 24/03/2012 at 6:57 PM

    he *brings* so much joy 🙂

  • Pingback: Goldenhar Syndrome - What It Is - My Child

  • 17/05/2012 at 1:45 AM

    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.

    • 16/06/2012 at 9:05 PM

      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.

  • 20/08/2013 at 7:26 AM

    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!

    • 12/04/2015 at 11:08 AM

      What doctor did he ear reconstruction?. I was wondering because I go to this doctor in Dallas,Texas. His name is Jeffrey fearon. I’m at my 2nd stage and I am getting my 3rd stage done this year.

    • 31/03/2016 at 4:21 AM

      Cheri, there is research out there now that shows a high incidence of autism in craniofacial syndromes including Goldenhar Syndrome. The facial features effectively bud off from the earliest brain structures and then develop in tandem with the brain. Anything that affects the neural tube of the fetus is likely to affect both neural and craniofacial development. I have milder impairment from Goldenhar Syndrome than most, but I have Aspergers (diagnosed very late) and other neurological problems. Contrary to the commonheld wisdom, it is a good idea to have genetic testing done. I have a double mutation on the MFTHR gene, which is common in a variety of neural tube disorders including both Goldenhar Syndrome and autism. Persons with the double mutation on the 1298a and C677t alleles will have a greatly impaired ability to process folic acid, which will cause neurological degradation throughout life, something I found out after 5 decades of slow deterioration. Fortunately, if your daughter has the mutations, she can take methylfolate, the processed form of folic acid.

      • 08/04/2016 at 9:00 AM

        That is interesting you say to get genetic testing. I just had an appointment with a genetic counselor who said there is no test for Goldenhar syndrome. But, it is unfortuately in her best interest to go down that path considering this medical faciluty is covering for the original provider (one of their providers) who did not have the proper medical faciluties to treat me, so they instead of referring me out to a faciluty who did, went ahead and did the bone surgery anyway, completely ignoring my soft tissue problems. Now, 20 years later, the soft tissue issues have become so bad I am having nuerological attacks so seveere, I am having seizures, visual imagery w/strobe light flashed I could fall into. I am in a HMO cover up and conflict so bad I can not even describe. I have just gotten a pass to Stanford, just in time. This is getting worse and I can not take any more nerve medication because of Goldenhar related kidney issues. I am not sure who to turn to if denied Stanford because I am running out of time. I am very afraid. Last year, I had an attack so bad my scull split open .25″. I don/t know who to talk to or go to in this dilhema as I slowly get worse. Can you advise me? Apparently, this condition (atrophied triangularis) should have been repaired before I was 20, if I don’t get help soon, I am pretty sure I will be done. Who do I ask for help since I am an adult w/a problem which is now attacking the nerve in my head, degenerative and I fear deadly. Where can I get help?

  • 10/01/2014 at 3:12 AM

    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.

  • 21/05/2014 at 7:50 PM

    my daughter just had our first grandson. At birth Paxton was born with skin tags made it sound like no promblem they could remove them. Then noticed a fleck of color missing from eye. We have taken him to eye dr where they mentioned Goldehar. Not gettinf alot of info & not sure what dr to contact.

  • 12/04/2015 at 11:02 AM

    I’m cadee I have Goldenhar syndrome. When I was born I was diagnosed with failure to thrive. The things that came with goldenhar was no right ear just a little part. I am currently having my ear reconstructed which is a 3 step surgery but on my 2nd we had a set back and had to get the 2nd one redone. I’m 12 and I got to Dallas,Texas to a hospital there and i have the best doctor there is has made my life change in no other way. I am deaf in my right ear and just found out just I have no inner nor middle ear on that right side with just a little miss shaped ear canal that doesn’t not work I went to see a doctor to get a hearing aid that would be placed on my head behind my ear. They told my mom and I would never be able to hear out of my right ear no matter what he did. I have no jaw bone which caused my chin to be misplaced and my doctor in dallas is making me a jaw to help with my breathing at night he will straighten my face with only a little scar under my chin on May 1st. I could not be more happy but on top of all of that I have cavities in my back teeth mostly with my condition. When I was born I was premature. I weighed in at 3plbs and 05ounces with being in nicu for 30 days so my lungs could developer completely from there I was put on a ventilator to help me breath which I’m not on now . I was 60% deaf in my left ear and had to wear a hearing aid then one day the doctors told my mom I was not deaf I had 100% hearing in my left ear. My journey has been bumpy but the road hasn’t ended yet. I have had aproxamnetly 11 surgeries. My mom was told I would have 20 to 22 surgeries in all by the time I’m done. I have a hard time in school. I get bullied and made fun of a looked at and people make faces the try and move their mouth over like mine. If I take any picture of my face its taken a certain way. I don’t like taking pictures mostly because I have a tumor on my right eye and cause it to be little. So if there’s anyone out there that their story is close or similar tell me about it. I want to know that I’m not the only one out there.
    Thanks sincerely
    Cadee Evans

    • 12/10/2015 at 12:52 PM

      You are a strong person Cadee, live you life as best as you can, don’t live it to please other people. What is important is that you have a family that supports and love you. Hang in there and be happy that you have all the chances to better your life with all the good doctors and health facilities available. You are still lucky I may say, others don’t have the opportunity to receive those kind of care. I am a Filipina nurse here in Saudi Arabia, we have a lot of cases here such as yours and thank God that the government here supports their citizen as best as they could. God bless my dear.

    • 31/03/2016 at 11:56 PM

      cadee would love for you to talk with my 13 year old granddaughter you and she really seem to have alot in common with your ears. my email is my name is helen holt

  • 22/09/2015 at 10:59 AM

    Hi everyone, my little niece has just given birth to her 3rd child and although hasn’t been officially diagnosed she has Goldenhar syndrome. She has a little kin tag on her left ear and a small cyst on her left eye. She will undergo tests within the next few weeks though she has some hearing issues diagnosed in her ear.
    At this stage facially she looks normal, we are so worried and don’t know what to expect with just these minor symptoms. Can anyone advise me???

  • 28/09/2015 at 2:41 AM

    Hello I have a 4 year old daughter that has Goldenhar Syndrome. I am trying found support groups for her to grow and learn that she is not alone. I want to learn more to help her.


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