When we look at a newborn baby, we feel so happy and loved, don't we? But think about it, sometimes, although very rarely, some babies come into this world with small differences that are present from birth. That's how, mainly in the face, ears, eyes, or spine, a condition that we are going to talk about today is called Goldenhar Syndrome. Don't be scared when you hear this name, we will talk about everything in a simple way that you can understand.
What is Goldenhar Syndrome?
Simply put, Goldenhar Syndrome is a rare, congenital condition . "Congenital" means that the condition is present at birth. It is classified as a craniofacial condition. This means that it causes abnormalities in the shape or development of your baby's face or head. In particular, Goldenhar Syndrome can affect your baby's spine, ears, and eyes.
Often, people with Goldenhar Syndrome have underdeveloped bones and muscles on one side of the face (also called hemifacial microsomia). Sometimes both sides can be affected. Some children also have a cleft lip or cleft palate.
It is named Goldenhar in honor of the researcher who first discovered the condition in 1952, Maurice Goldenhar. Another medical name for it is "oculo-auriculo-vertebral dysplasia." The name sounds a bit long, doesn't it? Let's break it down, shall we?
- Oculo means relating to the eyes.
- Auriculo means relating to the ear.
- Vertebral refers to the spine.
- Dysplasia is the abnormal development of a part of the body.
Now you understand the meaning of this name, right?
How common is this situation?
Goldenhar Syndrome is actually a very rare condition . Experts say it affects about one in every 3,500 to 25,000 newborns. It is also said to be slightly more common in boys than girls.
What are the causes of Goldenhar Syndrome?
The question that many people have is "Why does this happen?" In fact, experts still don't know the exact cause of Goldenhar Syndrome. It is believed to be caused by a change in a chromosome, but the cause is not always clear. In a very small percentage, about 1% - 2% of cases, the condition can be inherited from one or both parents.
Some research has shown that the risk of the baby developing Goldenhar Syndrome may be slightly increased if the mother has certain conditions or uses certain medications during pregnancy. For example:
- Gestational diabetes.
- Some medications used for acne, especially those containing retinoic acid, such as isotretinoin (Accutane®).
Therefore, if you are pregnant, it is very important to follow your doctor's instructions exactly.
What are the symptoms of this?
The symptoms of Goldenhar Syndrome can vary from person to person. However, one of the most common symptoms is that one side of the face does not develop properly . This is also called `hemifacial microsomia`, as we mentioned earlier. This can cause the jaw, cheeks, and eyes on one side of the face to be smaller and less developed than the other side. For example, one cheek may be flatter than the other, or the chin may be smaller on one side.
Other visible features are:
- Ear abnormalities: Some people may have one ear that is abnormally small (called `microtia`). Others may have one ear completely missing (called `anotia`). This can cause hearing loss.
- Affects both sides of the face: About one-third of children with Goldenhar Syndrome experience this stunted growth on both sides of the face.
- Problems with other organs: Problems can also occur with the kidneys, heart, lungs, or bones of the spine (vertebrae).
- Intellectual disability: About 15% of people may have some level of intellectual disability. This means learning difficulties, reduced ability to understand, etc.
In addition to this, other symptoms may be seen:
- Having a cleft lip or cleft palate.
- Congenital heart defects.
- Sometimes small lumps (dermoid cysts) may form on the eye.
- Hearing loss.
- Accumulation of water inside the skull (Hydrocephalus).
- Obstructive sleep apnea.
- Loss of the eyelid or other tissue in the eye (coloboma) and resulting vision loss.
- Scoliosis.
- Speech difficulties.
- Crossed eyes (`Strabismus`).
Remember, not everyone will experience all of these symptoms. Some people may only have a few of them, and their intensity may vary.
How do you know if you have Goldenhar Syndrome?
Often, doctors can diagnose Goldenhar Syndrome after the baby is born based on external symptoms, such as changes in the face and ears.
However, to confirm further and to see if there are other internal problems, the doctor may perform a few more tests. Some of these include:
- CT scans: These can detect changes in the structures inside the ear that may be causing hearing loss.
- Echocardiogram (echo test) or electrocardiogram (EKG): These tests can check how the heart is working. As we discussed earlier, heart disease can sometimes occur.
- Eye exams: These tests are done to check for abnormalities inside the eye.
- Ultrasound and X-ray: These can check for changes in the skull, spine, lungs, or kidneys.
- Genetic testing: These tests help rule out other genetic conditions that may cause similar symptoms.
- Sleep studies: These are done to check for obstructive sleep apnea.
Can this be identified before the baby is born?
This is very rare. However, sometimes, during prenatal ultrasound scans, doctors may notice changes in the fetus' jaw, ears, or mouth. If this happens, they may pay more attention to it.
What are the treatments for this?
Treatment for Goldenhar Syndrome varies depending on the symptoms . Not everyone is treated the same way. Some children may not need any special treatment if their symptoms are very mild. However, treatment is planned with the help of various specialists, as needed.
Here are some treatment options:
- Feeding assistance: Some babies may have difficulty sucking. In such cases, special bottles or nasogastric (NG) feedings may be needed.
- Improving vision: You can use glasses or have surgery to improve your vision.
- Hearing aids: Hearing can be improved by using hearing aids or bone-anchored auditory implants.
- Speech therapy: This is very important for developing language and communication skills.
- Surgery: Surgery may be performed to correct heart disease, cleft lip or palate, sleep apnea, small ears (microtia), or spinal deformities.
All of this is done to improve the child's quality of life as much as possible. Therefore, it is very important to follow the advice given by the doctor.
Can facial changes be fixed?
Yes, this is a problem for many parents. Cosmetic surgery can be done to make facial features more symmetrical. Many babies with Goldenhar Syndrome have surgery to change the appearance of their jaw, cheekbones, ears, or forehead. This is usually done when the child is a little older, at the appropriate age.
Can Goldenhar Syndrome be prevented?
As we've discussed before, there's no surefire way to prevent this condition because the exact cause is still unknown . However, it's important to follow all of your doctor's advice during pregnancy. In particular, don't use medications containing retinoic acid (such as some acne medications) without your doctor's advice. It's also important to eat a healthy diet.
If someone in your family has had Goldenhar Syndrome, it is a good idea to get genetic counseling. Then, if you are planning to have a child, you can understand the risk of that child developing this condition.
What will life be like with this condition?
This may sound a little scary to you. However, while the future of people living with Goldenhar Syndrome varies, the majority of people have a good outcome . With the right treatment, children with this condition can usually live a normal life. They are able to learn, play, and participate in society.
What are the things you want to ask the doctor?
When you find out that your child has this condition, you may have many questions. At that time, don't be afraid to ask your doctor these things:
- "Doctor/Miss, what are the main symptoms of Goldenhar Syndrome?"
- "What tests do I need to do to make sure my baby has this?"
- "What are the treatment options for this? What is best for my baby?"
- "What are some reliable places to learn more about this situation?"
- "Are there any organizations or parenting groups that help children and families with this kind of situation?"
Asking these questions will help you gain a better understanding of the situation and provide the best for your child.
Is Goldenhar Syndrome a disability?
Yes, in some cases this can be considered a `disability` . For example, if there is a hearing or vision impairment, it can be a disability. Also, if there is an `intellectual disability`, that person may need more support to do daily work and learn. Therefore, it is our responsibility as a society to provide them with the necessary facilities and support.
What other conditions have similar symptoms?
There are several other conditions that have similar symptoms to Goldenhar Syndrome. Therefore, it is very important to get an accurate diagnosis. Some of these conditions are:
- Branchio-oto-renal syndrome `(Branchioootorenal (BOR) syndrome)`
- CHARGE Association
- Townes-Brocks syndrome
- Treacher Collins syndrome
- VACTERL Association
Although this may sound a bit complicated, doctors take all of this into consideration when making diagnoses.
What we need to remember from what we've talked about!
Goldenhar Syndrome is a rare condition that is present at birth. It mainly affects the shape of a baby's face, head, and sometimes internal organs. Doctors can correct some facial or spinal deformities during infancy with surgery.
The important thing is that some children may not need special treatment if their symptoms are mild. And, in most cases, people with Goldenhar Syndrome live happy, fulfilling lives with the necessary treatment and support.
If you think your child has any of these symptoms, don't panic, but see a doctor immediately for advice. Early diagnosis and proper treatment can give your child a better future.
` Goldenhar syndrome, congenital condition, birth defect, craniofacial, hemifacial microsomia, oculo-auriculo-vertebral dysplasia, child health
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