Goldenhar syndrome can cause facial abnormalities at birth. It is a craniofacial syndrome that results in the abnormal structure of the face and head of the baby. Congenital disease occurs during the development of the baby. So, you can see visible signs and symptoms pointing towards the problem after the birth of the baby. The rare syndrome occurs only in one out of every 3,500-25,000 births around the world. The scientific term for the syndrome is oculo-auriculo-vertebral dysplasia (OAV syndrome). The male-female ratio of the disease is detected as 3:2. So, it affects men population more compared to females.
People affected by the syndrome have visible facial abnormalities, especially in the regions like spine, eyes, and ears. OAV syndrome can also affect the structure of the face as well as several internal organs. Individuals affected by the syndrome have varying signs. Therefore, the severity and signs differ from one person to another. If your child has the syndrome, then take medical assistance immediately. It will help evaluate the child’s condition thoroughly and take necessary steps. With early intervention, you can help manage the symptoms better.
What Is Goldenhar Syndrome?
Maurice Goldenhar, a Belgian-American doctor first documented the problem in the year 1952. The general practitioner and ophthalmologist observed the syndrome, which causes a multitude of complications. The condition present at birth can trigger several developmental problems. So, the main problem occurring due to the syndrome are:
- Facial Asymmetry (the child’s one side of the face looks different from the other side)
- Anotia (complete absence of ear)
- Microtia (partially formed ear)
- Ocular dermoid cysts (benign/noncancerous growth in the eyes)
- Spinal abnormalities
Apart from the visible structural abnormalities, Goldenhar syndrome can affect the internal organs. So, people suffering from the problem can experience complications in the following:
- Central nervous system
- Heart
- Lungs
- Kidneys
Therefore, if your loved ones have the syndrome, get immediate medical assistance. With timely care and management, you can improve their quality of life.
Symptoms Associated With Goldenhar Syndrome
People suffering from the syndrome have varying signs and symptoms. The severity of the problem differs from one individual to the other. You can distinguish the signs as external and internal. It is due to the fact that the problem can cause visible complications and non-visible problems.
Visible Symptoms
The recognizable symptoms, which appears on the external organs can indicate the presence of the syndrome. It usually occurs on the face and spinal cord. So, the visible symptoms that point towards the issue are:
Face
Children affected by Goldenhar syndrome can experience hemifacial macrosomia. It is the condition that causes the underdeveloped lower half of one side of the face. So, it does not grow normally. It results in underdeveloped bones and muscles in one side of the face. The syndrome can also result in the cleft palate (the roof of the child’s mouth contains opening to its nose). Some children have cleft lip (split or opening in the upper lip).
Eyes
The characteristics of the syndrome include problems with the eyes. So, you can observe the following defects in the eyes:
- Growth (noncancerous) on the eyes
- Missing eyelids
- Small eyes
Ears
The craniofacial abnormality can cause structural problems in the ears. So, the affected person may have:
- Small ears
- Ear tags
- Missing ears
- Hearing loss
Spinal Cord Problems
Goldenhar syndrome can result in the incomplete vertebrae development. At times, the issues can cause missing or fused vertebrae. So, people with the syndrome end up having a curved spine or scoliosis.
Internal Symptoms
The syndrome can trigger some less common symptoms that remain invisible to your eyes. The problems occur inside the body. So, around 5% to 15% of the people affected by the syndrome can suffer from mental issue and problems with internal organs. The abnormalities invisible to the eyes are:
- Intellectual disability (mild form)
- Congenital heart defect
- Kidney problems
It is better to seek advice from the doctor to look for treatment options that will manage the symptoms. So, children can have a better quality of life with timely assistance and care.
Causes Of Goldenhar Syndrome
The congenital problem occurs during the development of the fetus in the mother’s women. the complication occurring in the structures referred to as first and second branchial arch leads to Goldenhar syndrome. The first and second branchial arch develops into the head and neck of the baby. The exact reason that triggers complication in the arch remains a mystery to the scientists. But, the syndrome comes under the group of conditions named as craniofacial macrosomia. Therefore, the problem can lead to infants having facial abnormalities or other problems at birth. The scientists speculate the following reasons behind the syndrome:
Environmental Factors
Though doctors do not have conclusive evidence, they suspect the problem has an environmental connection. The exposure to adverse environmental condition during pregnancy can lead to the problem. The theory gained momentum when studies showed the prevalence of the syndrome among children of Gulf war veterans. So, the chromosomal abnormality can occur when either of the parents exposes themselves to adverse environmental conditions.
Inherited Genetic Disorder
The majority of the cases with the syndrome have no connection to genetics. But, around 1% to 2% of the cases have a genetic connection. In rare cases, either a recessive or autosomal gene can result in the syndrome. So, the gene or genes triggering the problem occur on a chromosome without any relation to sex chromosomes. The dominant genes, mostly cause the syndrome compared to the recessive genes. But, to date, no specific gene is identified as the root cause of the problem.
Now, parents with a child having Goldenhar syndrome can fear their next pregnancy. But, new studies suggest that you have very less possibility of having another child with the same syndrome (1% or less). A child with the syndrome has only a 3% chance of having their own child with the syndrome. So, the child has less chance of passing the defective gene to his/her children.
Diagnosis Of Goldenhar Syndrome
You can’t take a genetic or chromosomal test to identify the syndrome. Though people in the same family can have children with the syndrome, genetics does not play an important part in the problem. The exact reason for the congenital problem remains unclear. So, once your child is born, you can take him/her to the doctor for a better diagnosis.
Physical Assessment
The specialist doctors examine your child and tries to identify the signs and symptoms associated with the syndrome. If your doctor finds the signs associated with the problem, then your child needs to undergo further tests. It will conclude the presence of the syndrome without any doubts.
Hearing And Vision Tests
The underdeveloped ears and eyes can cause problem hearing and seeing. So, the doctor can suggest for hearing and vision tests to check for abnormalities.
X-Ray
Your child can suffer from spinal problems due to the syndrome. Therefore, the x-ray images can help the doctor check for abnormalities with your child’s vertebrae.
Imaging Tests
The imaging tests like ultrasound can aid in providing comprehensive information regarding heart and kidney health. So, the doctor can detect any problem that affects the organs. For further clarity of the images, your doctor can suggest CT scans.
Genetic Testing
Your child’s blood is sent to the lab for genetic testing. It is to rule out the presence of other problems that have similar signs.
Treatments For Goldenhar Syndrome
People suffering from the syndrome have diverse symptoms with varying severity. Therefore, the treatment focuses on individual needs. You need to understand that no permanent cure is available for the problem. So, the treatment manages the signs and symptoms of each affected person. Depending on the complication faced by the individual, the health care provider offers treatment. Some people have only mild symptoms. In such cases, you require no specific treatment for the problem.
Medical Team
You need to look for doctors and health care professionals who have experience with the disease. Such professionals can offer you the best medical advice. Having a child with such syndrome can put stress on caretakers. Therefore, you need to find a specialist team of doctors to handle the problem. You can find specialists through clinical trials or advocacy organizations. For accessing more sophisticated technology and treatment option, you need to contact a medical university or tertiary medical center.
Feeding Problems
People suffering from the syndrome have feeding problems due to craniofacial abnormalities. It can lead to nutritional deficiency and other health problem. The affected people need to get complete nutrition for better health and immunity. Therefore, you need to seek the assistance of a professional medical health care provider. The professional can suggest alternatives to provide adequate nutrition to the children and adults suffering from the problem. So, the techniques to improve the feeding include:
Special bottles
Babies born with cleft palate due to the syndrome cannot create a vacuum to extract the milk from the mother’s breast or normal bottles. Therefore, they need special bottles that have a one-way valve, which stops the air from entering the teat. It helps the babies drink milk with a slit valve mechanism.
Nasogastric Tube Feedings
NG tube or the nasogastric tube carries the essential food to the stomach through the individual’s nose. It is suggested by the doctor when the child does not get enough calories due to feeding problems.
Gastrostomy Tube Placement
G-tube or the gastrostomy tube can provide food directly to the stomach. It is a flexible tube placed through the skin and stomach wall. The doctor places it using the procedure known as endoscopy.
Breathing Problems
The syndrome affected individuals have an underdeveloped lower jaw. It makes it difficult to breathe problems. Such individuals also develop sleeping disorders like sleep apnea. So, it makes the individual exhausted and tired due to lack of sleep and breathing issues. You need to seek assistance from medical specialists who can provide appropriate care for the problem. in some cases, surgical intervention can offer the affected person relief.
Hearing Loss
Children born with the syndrome miss an ear or have hearing issues. For kids having mild symptoms, visible symptoms may not appear. Therefore, children diagnosed with the problem need hearing evaluation. By six months of age, the child needs the hearing assessment to check for problems. If the doctor finds hearing issues, then they offer a remedy to overcome the problem. In most cases, the medical professional recommends hearing aids or other treatment methods to overcome hearing loss.
Noncancerous Tumors In Eyes
People affected by the syndrome can experience epibulbar tumors. It is the noncancerous tumor that grows in the eyes. The tumors can come in varying sizes. But, large size tumors can trigger several problems. It can interfere with vision and cause problems. Therefore, it needs surgical intervention to remove large tumors.
Kidney Problems
Syndrome affected people can suffer from kidney problems. Therefore, it needs medical treatment to avoid any fatal complications.
Spine Abnormalities
Children suffering from Goldenhar syndrome have spinal abnormalities. It can affect their movement and cause complications in life. So, the doctor checks for the issue. If it is a severe problem, then surgery can provide relief from the problem.
Congenital Heart Defects
The congenital heart defect can trigger several complications in the growth and development of the child. So, getting medical assistance as soon as possible can help combat the issue. It will help the child manage the heart problem and lead a happy life.
Surgery To Correct Craniofacial Abnormalities
Goldenhar syndrome causes craniofacial abnormalities. In most cases, the problem can result in having a cleft lip along with palate. Therefore, people affected by such facial abnormalities need surgical intervention to correct the problem. You need to seek assistance from a craniofacial surgeon who can rectify the condition by performing the following repair on the face:
- The surgeon lowers the jaw on the affected side of the face to make it look normal.
- Invasive procedure to lengthen the lower jaw to provide a better shape to the face.
- The operation to rebuild the missing outer ear (in most cases, the affected person requires three to four surgeries to correct it)
- Surgery to add bone to the cheek area to provide a definition to the face.
- Addition of soft tissue to the face to make it look normal.
People affected by the syndrome can have low self-confidence due to their visual appearance. The proficient surgeons can work on the face to improve its appeal. So, your loved one with the syndrome can gain their self-confidence back with the corrective surgery.
Speech Therapy
People affected by the syndrome have craniofacial abnormalities. It increases the risk of having a wide variety of problem associated with speech. Therefore, affected people need the services of a speech therapist. The professional can perform a speech evaluation to detect the extent of the damage. It will help develop a plan to improve the speech through therapy. Therefore, if your loved one has a speech problem due to the syndrome, get assistance from a speech therapist to improve verbal communication.
Preventing Goldenhar Syndrome
The problem is not considered a genetic disorder. But, the actual problem triggering the syndrome remains unclear. The syndrome occurs due to the multifaceted cause. Therefore, you can follow some steps during pregnancy to avoid the issue.
Balanced Diet
Pregnant women can avoid birth defects like Goldenhar syndrome by eating a well-balanced and healthy diet. It will improve the immune system of the mother as well as baby and avoid any complications.
Avoid Drugs And Alcohol
Exposure to toxic substances, including unwanted drugs and alcohol can cause severe issues to the baby. Therefore, women who are pregnant or planning to get pregnant need to discontinue drinking alcohol and drugs. It will keep the unborn baby safe from the toxic substance. So, you can prevent birth defects.
Stay Healthy
By managing the different types of infection affecting the expectant mother, the chances of delivering a healthy baby increases. You need to stay healthy and overcome infections as well as diseases during your pregnancy. Therefore, staying healthy will minimize your risk of delivering a child with birth defects like Goldenhar syndrome.
Get Medical Advice
The rare syndrome can occur in a family more than once. Therefore, the researches have concluded that genetic factor can play a part in the rare syndrome. Though the concept remains unclear. But, if you have family members with the syndrome, then you need to talk to your doctor before getting pregnant. Your doctor can offer guidance on how to deal with the issue.
Remember, the preventive steps may not show 100% effectiveness. But, you can reduce your risk of having babies with a defect with the simple steps. Always discuss your concerns with your doctor for professional advice and guidance in the right direction.
Conclusion
Children suffering from Goldenhar syndrome have varying outlook. But, in most cases, you can observe a positive outcome. Depending on the severity of the problem, the prognosis differs. With proper treatment and care, the syndrome affected child can expect a normal lifespan. They have normal intelligence and can flourish in social circumstances. Parents need to observe the signs and contact the best doctors immediately. A skilled and proficient surgeon can correct the craniofacial abnormalities and allow the child to have a normal life. Therefore, access the latest and sophisticated medical care for your child to help them lead a happy life.
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