Goldenhar syndrome is a rare disorder that affects the formation of the skull, head, and face. The syndrome is congenital, which means it is present at birth. Another name for this disorder is oculoauriculovertebral dysplasia.
Goldenhar syndrome affects one out of every 3,500 to 25,000 children at their time of birth. The formational flaws appear in the spine, eyes, face, and ears of people with Goldenhar syndrome.
In some cases, this condition can also cause harm to the internal organs. The severity of Goldenhar syndrome depends on the individual case.
The condition is categorized under the group of disorders called craniofacial microsomia.
What Are the Causes of Goldenhar Syndrome?
There is no definitive cause of Goldenhar syndrome. However, some research suggests it stems from fetal growth restriction or issues with blood circulation.
Researchers also suspect that genetics may have a role to play, since a small percentage of people with Goldenhar syndrome have family members with the same condition.
What Are the Symptoms of Goldenhar Syndrome?
Goldenhar syndrome symptoms differ from one person to another and can be mild or severe, depending on the condition.
Some common symptoms include:
- Microtia, a condition in which a complete ear or part of an ear is missing
- Other ear abnormalities
- Underdevelopment of the facial muscles
- Underdevelopment of the template bone, cheekbone, and jaw bone
- Cleft lip
- Cleft palate
- Unusually small or large mouth
- Dental problems
- Epibulbar tumors, referring to noncancerous cells growth in the eyes, or vision loss
- Defects in the retina of the eyes
Typically, Goldenhar syndrome only affects one side of the face. However, in some cases, it may affect both sides.
People with Goldenhar syndrome may also have some additional symptoms, such as hearing loss, lung problems, limb defects, problems in the spine, and kidney conditions.
How Is Goldenhar Syndrome Diagnosed?
Your doctor will diagnose Goldenhar syndrome based on visual signs and symptoms. First, they will do a physical exam. Then, they will order imaging studies to confirm the diagnosis. Some common imaging studies are:
- CT scan
Depending on the individual case, the doctor may also recommend a genetic test to rule out certain conditions that may have similar features.
What Is the Treatment for Goldenhar Syndrome?
Goldenhar syndrome treatment depends on the signs an individual is showing, along with their age. The doctor may recommend different interventions at different stages of development.
Here are various treatments that may be given to a person with Goldenhar syndrome:
- Feeding. People with Goldenhar syndrome may have trouble eating because of malformed facial features. The doctor may recommend special feeding bottles for this condition. Another option is a nasogastric feeding tube, which is a special tube taking medicine and food through the nose to the stomach. A nurse will teach you how to use and flush the tube and perform skin care for the area around the nose.
- Breathing. Some people, especially those with an underdeveloped jaw, may develop sleep apnea. These individuals should be provided with appropriate intervention strategies from relevant medical specialists.
- Speech. People with Goldenhar syndrome also have trouble with speech due to craniofacial malformation. The doctor may recommend speech therapy for this.
- Hearing loss. When children are born with Goldenhar syndrome, doctors recommend a hearing evaluation at six months. If any hearing problems are detected, your doctor may recommend hearing aids or similar treatments, depending on how severe the hearing loss is.
- Cleft lip or cleft palate. The appropriate treatment for this is surgical repair. Similarly, if there are any heart defects, spine problems, or kidney conditions, those will also be treated through surgery.
- Epibulbar tumors. These are noncancerous cell growths in the eyes. A surgeon will remove them if they interfere with your eyes or are generally too large to be left in.
Since Goldenhar syndrome is visible at birth, your doctor can create a treatment plan early on. The interventions and treatments will differ as your child grows and develops. Speak to your doctor if your child is having any breathing, feeding, or speaking.