Introduction:
Goldenhar syndrome is an uncommon congenital condition affecting multiple body parts. There are two types of Goldenhar syndrome: primary and secondary. Primary Goldenhar syndrome occurs when no other abnormalities occur. Secondary Goldenhar syndrome is apparent along with another genetic disorder or chromosomal abnormality. Read more about the Goldenhar syndrome and how they thrive.
What Is Goldenhar Syndrome?
Goldenhar syndrome is a rare congenital condition affecting many body parts. Babies with this syndrome have abnormal facial features, including an unusually small or large head, an underdeveloped jaw, a completely or partially missing ear, and a droopy eyelid that covers the eye. Goldenhar syndrome is often found together with other health conditions such as heart defects and hearing loss.
What Are the Causes of Goldenhar Syndrome?
The exact cause of Goldenhar syndrome is unknown. Genetic mutations that occur during fetal development are thought to be the cause. Goldenhar syndrome is not inherited, but more than one family member may have it. Some children may be born with Goldenhar syndrome as a result of other complications during pregnancy. For example, if a pregnant woman develops high blood pressure, it can cause damage to the baby.
What Are the Signs and Symptoms of Goldenhar Syndrome?
Most people with Goldenhar syndrome have some combination of the following symptoms:
-
Underdeveloped or Misplaced Facial Bones - A person with Goldenhar syndrome may have a very small head, an underdeveloped jaw, or a cleft palate or lip. They may also have an ear that is completely or partially missing.
-
Abnormal Eye Movement - People with Goldenhar syndrome may have difficulty moving their eyes in a certain direction.
-
Abnormal Eyelid Shape - A person with Goldenhar syndrome may have eyelids that are very low, drooping, or very high.
-
Hearing Loss - Some people with Goldenhar syndrome may have hearing loss.
-
Cleft Palate - A cleft palate is a condition in which the roof of the mouth is either partially or completely split.
How Is Goldenhar Syndrome Diagnosed?
Given the wide range of signs and symptoms associated with Goldenhar syndrome, it is important to consult with a medical specialist, who can rule out other syndromes with similar symptoms and recommend the most appropriate treatment plan for the child’s specific needs. During the initial diagnostic process, the child’s doctor will collect information about their current health and development, including any symptoms. The doctor may also order blood tests to rule out other possible genetic conditions. Diagnosis is usually delayed, as the symptoms are very subtle, and many people with Goldenhar syndrome do not receive a diagnosis until they are two years old or older. There is no genetic test for Goldenhar syndrome since it is not inherited. But genetic testing may be done if a child with Goldenhar syndrome also has other health issues that require genetic testing.
How Is Goldenhar Syndrome Treated?
Goldenhar syndrome cannot be cured, but there are many ways to manage the symptoms and lead a fulfilling life. Treatment and interventions will vary based on the severity of the condition and the specific symptoms a person with Goldenhar syndrome is experiencing. Treatment may include surgery, assistive hearing devices, speech therapy, occupational therapy, or therapy for associated conditions.
What Are the Tips for Managing The Condition?
-
Stay positive - Accept the condition and know about the needs.
-
Stay connected with others who understand the condition. Join online communities, attend support groups, and connect with people in the local area who can relate to and share the journey.
-
Stay healthy and active - Eat a balanced diet, stay hydrated, get plenty of rest, and find ways to decrease stress.
-
Stay connected with the medical team and take good care- learn about the condition and what can be done to manage the symptoms.
-
Keep the sense of humor - Laugh often and do not take things too seriously.
-
It is not necessary to deal with it all alone.
-
Feel free to ask for help when someone needs it.
-
Feel free to reach out to others who have a similar condition.
What Is the Prognosis for a Baby With Goldenhar Syndrome?
The prognosis for individuals with Goldenhar syndrome varies. It depends on the severity of their symptoms and how each child responds to treatment. Some people with Goldenhar syndrome have only minor issues that do not affect their quality of life. Others may need more extensive treatment to correct serious facial deformities, ear problems, and other issues. Some people with Goldenhar syndrome may also have a condition called hearing loss that can be mild, moderate, or severe. Hearing loss may affect one or both ears. Some children may need hearing aids or cochlear implants to improve their hearing. Others may need sign language or other nonverbal communication methods to communicate with others.
When to See a Doctor for Goldenhar Syndrome?
If an individual or their child has any of the following symptoms, they should see a doctor:
-
Abnormalities in the shape or size of the head or face.
-
Unusual facial features include a small chin, underdeveloped cheekbones, or a notched upper lip.
-
Eye problems include drooping of the eyelids, crossed eyes, or missing or underdeveloped eye structures.
-
Hearing loss.
-
Heart defects.
-
Kidney abnormalities.
Goldenhar syndrome is rare, so not all doctors know it. It is necessary to see a doctor specializing in genetic conditions or birth defects.
Conclusion:
Goldenhar syndrome is a rare condition that affects about one in every 5000 newborns. It can be challenging to live with, but with the right specialists and support, people who have Goldenhar syndrome can lead happy and fulfilling lives. For a child with Goldenhar syndrome or thinking that a child may have it, it is important to talk to the doctor to start any needed treatment.
