The birth of your child is one of life’s most precious moments.
If your baby has been diagnosed with Goldenhar syndrome (GS), it’s natural to feel a mix of emotions—from love and determination to moments of uncertainty about what the future holds.
Goldenhar syndrome is a congenital condition (present at birth) that can affect your child’s vision and cause noticeable differences in facial features, like an underdeveloped jaw, cheeks, and ears. These challenges may seem overwhelming, but there’s hope—and a way forward.
At The Los Angeles Ear and Craniofacial Center team, led by Dr. Youssef Tahiri, we’re here to help your child thrive. With the right medical care—from corrective glasses to advanced surgical interventions—we can minimize the impact of GS on your child’s life and help them unlock a bright, fulfilling future.
Our team of compassionate specialists will partner with you to craft a customized treatment plan for your child, addressing vision issues, hearing challenges, and even feeding or breathing difficulties. From diagnostic tests to post-treatment follow-ups, we’ll guide you through every step of the journey with care and expertise.
Your child deserves every opportunity to shine. Let us help you give them the bright, colorful life they’re meant to enjoy.
Contact us today to take the first step. Call (310) 255-4476, email us at team@tahiriplasticsurgery.com, or visit us at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.
Every moment matters—and with the right team by your side, your child can overcome any challenge.
What Are the Eye Problems Associated With Goldenhar Syndrome?
Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAVS), is a condition characterized by differences in the eyes (oculo), ears (auriculo), and spine (vertebral).
When it comes to the eyes, children with GS may experience a range of unique challenges that can impact their vision and overall eye health.
Here are the most common eye-related issues associated with Goldenhar syndrome:
- Microphthalmia: This condition causes an abnormality in the eyeballs—they tend to be abnormally small. In severe cases, the eye may appear absent even though some eye tissue is present.
Microphthalmia is distinct from anophthalmia, a malformation where the eyeball fails to form entirely. However, anophthalmia can also occur in children with GS.
- Epibulbar dermoid cysts: These benign (noncancerous) growths appear as white-yellow or pinkish masses on the surface of the eye. They may affect the cornea (the clear front covering of the eye) and sometimes contain hair follicles or fat cells, depending on the type:
- Limbal Dermoids: Often involve the cornea and may have hair on their surfaces
- Lipodermoids often contain a substantial layer of mature fat cells
- Eyelid coloboma: A coloboma is missing tissue in the eye, which can occur in the iris (colored part of the eye) or upper eyelid. In the iris, it often creates a “keyhole” shape in the pupil (dark middle of the eye).
On the other hand, upper eyelid colobomas can lead to ocular complications, such as:- Corneal ulceration, which causes red or “bloodshot” eyes, watery eyes, severe eye pain, and eye discharge
- Corneal perforation, which causes vision loss, pain, and aqueous leakage
- Leukoma, a dense, white scar that appears on the cornea that can cause vision impairment
- Amblyopia (lazy eye), which causes blurry vision in one eye
- Strabismus: Strabismus, or misaligned eyes, may cause one eye to turn in a direction different from the other. This misalignment can result in “crossed eyes” and may interfere with proper vision development.
Children with GS can experience visual impairment and related eye issues. For instance, individuals with microphthalmia may also have:
- Cataracts (cloudy lens in the eye)
- Narrowed palpebral fissure (smaller-than-average eye openings)
- Microcornea (small, abnormally curved cornea)
If your child shows signs of these ocular deformities, it’s essential to seek medical care promptly. Consulting a pediatric ophthalmologist (eye doctor) is the first step.
An ophthalmology specialist can provide an accurate diagnosis, assess the extent of any vision problems, and recommend a treatment plan tailored to your child’s needs.
By addressing these issues early, you can help protect your child’s vision and set them up for a brighter future. Remember, with the right medical support, many of these challenges can be managed effectively.
If you have concerns about your child’s eye health, don’t wait—consult an expert today.
What Is Goldenhar Syndrome?
Hearing that your child may have Goldenhar syndrome can be disorienting and leave you with countless questions. However, “What is Goldenhar syndrome?” is likely at the top of that list.
GS is a congenital (acquired from birth) condition first described in 1952 by the Swiss ophthalmologist Maurice Goldenhar, hence the name Goldenhar syndrome.
It also goes by several other names, including the following:
- Oculo-auriculo-vertebral spectrum
- Facio-auriculo-vertebral dysplasia
- First and second branchial arch dysplasia
- Unilateral craniofacial microsomia
- Unilateral mandibulofacial dysostosis
- Lateral facial dysplasia
- Otomandibular dysostosis
- Velocardiofacial syndrome
But to truly understand GS, you must familiarize yourself with the concept of a syndrome. In a nutshell, a syndrome is a disorder in which several symptoms occur together.
In the case of GS, these symptoms typically appear in the craniofacial (face and skull) region, resulting in deformities such as an underdeveloped jaw, cheek, and eye (hemifacial microsomia).
However, Goldenhar syndrome can also present as spinal anomalies like hemivertebrae (underdeveloped spine) and scoliosis (curved spine).
In extremely severe cases of Goldenhar syndrome, heart defects, renal (kidney) issues, and central nervous system problems can also occur in addition to the above symptoms.
This description of Goldenhar syndrome may sound bleak. However, you must remember that GS affects every child differently.
Causes
If your child has the distinctive features of Goldenhar syndrome, such as eye and ear anomalies like crossed eyes and microtia (deformed external ear), you’re likely asking yourself, “How did my baby get the condition?”
Was it something you did during the pregnancy? Did you not follow your doctor’s lifestyle advice? Did your child acquire GS because you weren’t doing enough during their prenatal development?
Some researchers suggest that nutritional and environmental factors can play a role in the development of congenital disorders like GS, such as:
- Certain medications: Specific drugs taken during the child’s gestational period, including cocaine, thalidomide, tamoxifen, and retinoic acid, have been linked to GS.
- Health conditions: Research suggests that health conditions, such as maternal diabetes, antepartum bleeding, and hypertension, may contribute to congenital disorders like GS.
- Other factors: Some scientists theorize that exposure to substances like tobacco or radiation from procedures like cholecystography can lead to malformations like the ones seen in children with GS.
However, most medical professionals believe that mutated genetic material is the flashpoint for Goldenhar syndrome, with some pointing to chromosomal aberrations such as the following:
3del(5p) | trisomy 18 (14,58) | dup(22q) |
del(6q) | Recombinant chromosome 18 | trisomy 22 |
trisomy 7 mosaicism | del(18q) | 49,XXXXX |
del(8q)(161) | Ring 21 chromosome | 49,XXXXY |
trisomy 9 mosaicism (166) | del(22q) | 47,XXY |
The statistic indicating that up to 2% of babies with GS inherited the condition following an autosomal dominant pattern (passed down from one parent) further reinforces this genetic link.
Unfortunately, while substantial scientific research and evidence support these suspected causes, the root of Goldenhar syndrome remains unknown.
Signs and Symptoms
Goldenhar syndrome occurs in about 1 in 3,500 to 25,000 live births. The condition has a 3:2 male-to-female ratio, meaning it’s more common in babies assigned male at birth (AMAB).
While GS presentations can vary significantly, they often appear as a triad or a set of three distinctive clinical features, which are the following:
- Mandibular hypoplasia: Also known as micrognathia, mandibular hypoplasia is a craniofacial condition that causes lower jaw (mandible) underdevelopment.
- In severe cases, this deformity can block your child’s airway, resulting in respiratory issues like sleep apnea and noisy breathing. It can also cause feeding challenges, leading to poor weight gain.
- If your kid has mandibular hypoplasia, they may have openings on the roof of their mouth (cleft palate) or upper lip (cleft lip).
- Eye and ear irregularities: Ocular and auricular abnormalities are generally present in children with Goldenhar syndrome, including but not limited to the following:
- Abnormally small eyes
- Growths under the skin of the eyes
- Notches in the iris or missing upper eyelid tissue
- Crossed eyes
- Benign growths in front of the ear or on the cheek (preauricular skin tags or appendages)
- Deformed outer ears
- Absent external ears (anotia)
- Closed ear canals (aural atresia)
While the severity of these eye and ear malformations can vary significantly from child to child, they often result in some degree of vision and hearing loss.
- Vertebral anomalies: Children with GS can have underdeveloped or fused spines, causing spinal deformities like scoliosis. Unfortunately, vertebral anomalies can affect the ribcage.
- Missing or fused ribs can lead to poor thoracic (chest) organ growth. For this reason, some children with GS also have heart, kidney, lung, and nervous system problems.
This triad of symptoms often involves one side of the face and body (unilateral), causing facial asymmetry. However, around 10% to 33% of babies with GS have bilateral (both sides) features.
Diagnosis
Learning of Goldenhar syndrome’s symptoms can be discouraging. After all, presentations like eye anomalies can impact your little one’s overall quality of life and future prospects.
Fortunately, various options for treating and managing your child’s condition are available. The only question is, “Do you know which ones can address your baby’s unique needs?”
Here’s where diagnosis comes in. A thorough and precise evaluation allows you to determine the severity of your child’s case, giving you the insight to make informed decisions about their care.
Diagnostic testing for GS often involves imaging techniques, such as MRIs (magnetic resonance imaging), CT (computed tomography) scans, and X-rays.
However, some medical professionals may request specialized tests for a more thorough analysis of your child’s unique condition, including:
- Electrocardiograms (EKG) or echocardiograms (echo tests) to evaluate your kid’s heart function
- Cardiac catheterization to check if your child has any heart conditions
- Eye exams to spot ocular abnormalities and assess vision impairments
- Sleep studies to evaluate your child for breathing problems like obstructive sleep apnea
Schedule a consultation with Dr. Tahiri and The Los Angeles Ear and Craniofacial Center to ensure your child receives an accurate and thorough diagnosis of their condition.
Call us at (310) 255-4476 or email team@tahiriplasticsurgery.com. You can also fill out our contact form to send images of your baby’s symptoms.
Can You Diagnose Goldenhar Syndrome Before Birth?
If your child was born with the characteristic features of Goldenhar syndrome, you might ask, “Why wasn’t this congenital condition detected during the pregnancy?”
Prenatal diagnoses like ultrasounds allow healthcare providers to spot signs of GS in a fetus, such as malformed jaws, ears, or mouth. However, GS symptoms can vary.
Fetal ultrasonography, for instance, depends on these abnormalities to detect GS. In other words, if your child has other features like eye anomalies, your doctor won’t find out until after birth.
That’s why medical professionals recommend genetic testing to help identify genetic aberrations like Goldenhar syndrome in your personal and family history.
When paired with genetic counseling, this process can provide valuable insights into the likelihood that your children may inherit this life-altering condition.
Treatments
Here’s probably the last thing you’d want to hear if your precious little one has Goldenhar syndrome and is suffering from the many challenges that come with it, including visual impairment: there’s no cure.
GS is, unfortunately, a lifelong condition. However, you shouldn’t feel helpless. After all, various treatment options are available to help you manage your baby’s symptoms.
For example, corrective glasses or eye surgery may help improve your child’s vision. At the same time, auditory devices like bone-anchored hearing aids (BAHAs) can help address hearing loss.
To correct craniofacial differences, you can consider surgical procedures like those offered by Dr. Tahiri. He offers a range of services, including microtia repair, cranioplasty, and jaw surgery.
However, you must remember that there’s no one-size-fits-all solution for Goldenhar syndrome. Your child’s care hinges on their unique challenges and needs. That’s why you need the right team in your corner.
Fortunately, The Los Angeles Ear and Craniofacial Center team is committed to providing every child with a personalized and comprehensive treatment plan.
You can schedule a free consultation with our experienced, highly trained, compassionate team by calling (310) 255-4476 or emailing team@tahiriplasticsurgery.com.
Follow-Up Care
Although ongoing medical care is usually necessary for children with Goldenhar syndrome, follow-up appointments will depend on the specific treatment procedure.
For instance, here’s what the post-operative care would look like if your child undergoes Dr. Youssef Tahiri’s microtia repair surgery:
- Post-op day #2 or #3: Your child will need a follow-up appointment a few days after the procedure. This session involves removing the absorptive dressing.
- Post-op week #2: The subsequent follow-up care occurs two weeks after the operation. Here, Dr. Tahiri will remove the first silicone ear mold and install a new one.
- Post-op week #3: Three weeks after the surgery, Dr. Tahiri will wash the gauze pad to stimulate the removal of the dissolving chromic sutures.
- This follow-up appointment also involves teaching parents like you how to make the silicone ear mold your child will use every night for the next four months.
Dr. Tahiri’s microtia repair surgery uses porous polyethylene ear (PPE) implants, such as MEDPOR™, OMNIPORE™, and SUPOR™, made from skin grafts from the back of your child’s scalp.
For more information on your child’s specific follow-up care, don’t hesitate to contact our Los Angeles Ear and Craniofacial Center team. We can happily guide you through the entire process.
“How Can I Prevent Goldenhar Syndrome?”
The old adage, “Prevention is better than cure,” emphasizes the importance of addressing health issues at their root to prevent them from arising.
However, this health principle may not apply to Goldenhar syndrome, considering the medical community has yet to pinpoint its precise cause. So, what do you do?
Simple: you follow your healthcare provider’s advice and recommendations, such as avoiding specific medications like retinoic acid or stopping harmful lifestyle activities such as tobacco smoking.
Although doing so doesn’t guarantee that you’ll prevent your children from acquiring Goldenhar syndrome, it does boost the likelihood of healthy births. What parent doesn’t want that?
Does Goldenhar Syndrome Affect Life Expectancy?
A Goldenhar syndrome diagnosis can be disheartening. As a parent, you’re likely worried about how the condition’s symptoms will affect your baby’s life prospects.
After all, your child may experience vision loss, face psychosocial challenges from their facial features, and, in severe cases, may develop life-threatening heart, lung, and kidney problems.
While we don’t want to downplay your concerns—because they’re undoubtedly valid—you shouldn’t worry. With treatment and depending on the associated anomalies, children with GS can live as long as those without the congenital condition.
For this reason, you must build the right craniofacial team to guide you to the appropriate medical interventions and management approach tailored to your child’s unique needs.
How Can Parents Help?
Goldenhar syndrome comes with baggage. From vision impairment to social and emotional difficulties, your child will need your assistance to overcome the various challenges of living with GS.
Here are some ways you can provide that much-needed help:
- Foster a positive environment: It’s natural for your child to feel different from their peers due to their facial differences and worry about how others perceive them.
- So, why not create a loving and supportive atmosphere where they can feel accepted and valued for who they are?
- Consult a doctor: Your child may have complications like heart defects due to their condition that may require medical intervention. That’s why you must consult a doctor.
- Regular check-ups with your baby’s pediatric care provider can help you catch and address potential concerns regarding your child’s health and monitor treatment progress.
- Create a craniofacial team: Goldenhar syndrome can simultaneously affect several parts of your child’s body, requiring a multidisciplinary approach to address the various challenges.
- Therefore, you need a team of specialists, such as ophthalmologists, audiologists, and reconstructive plastic surgeons like Dr. Youssef Tahiri, who specialize in craniofacial procedures.
- If you need help building your child’s care team, The Los Angeles Ear and Craniofacial Center will happily recommend and connect you with the medical professionals your kid needs to thrive.
“What Else Should I Ask My Doctor?”
Seeing your child with the characteristic features of Goldenhar syndrome can spark countless questions, such as “How and why did my baby get this condition?”
While your concerns are valid, some questions are more critical in caring for your precious little one. So, what questions should you ask your healthcare provider?
Here are some of them:
- “What are the specific signs and symptoms of Goldenhar syndrome in my child’s case?”
- “Are there tests to diagnose and assess the full extent of my child’s condition?”
- “What are the available treatment options for my baby’s symptoms?”
- “Are there any potential long-term complications I should be aware of?”
- “Where can I find reliable information and support resources to best prepare for my child’s future?”
By asking these questions, you can gain invaluable insight into Goldenhar syndrome and your baby’s unique case, which is essential for making informed decisions regarding your child’s care.
What Conditions Have Symptoms Similar to Goldenhar Syndrome?
Although Goldenhar syndrome is distinguishable by its classical triad of mandibular hypoplasia, ear and eye anomalies, and vertebral deformities, several conditions share its symptoms.
These disorders include the following:
- Branchiootorenal (BOR) syndrome: This condition disrupts neck tissue development, causing ear and kidney malformations.
- CHARGE syndrome: This disorder causes colobomas, heart defects, atresia choanae, retarded growth and mental development, genital abnormalities, and ear abnormalities.
- Townes-Brocks syndrome: Like GS, this disorder can cause eye abnormalities, hearing loss, heart defects, and kidney problems. However, it also causes foot deformities and genital malformations.
- Treacher Collins syndrome: This condition shares many facial features similar to GS, including mandibular hypoplasia and ear and eye anomalies like microtia and colobomas.
- VACTERL association: This disorder causes vertebral, anorectal, cardiac, tracheoesophageal fistula or atresia, renal, and limb abnormalities.
A Note From Dr. Tahiri
We’ll be honest. Goldenhar syndrome can make life challenging for your child, especially if their symptoms cause problems like visual impairment. Fortunately, you’re not alone in your journey.
At The Los Angeles Ear and Craniofacial Center, we treat every patient like family—your child’s well-being is at the heart of everything we do. So, you can be confident that, like you, we want the best for your kid.
Together, we’ll create a custom treatment plan tailored to your precious little one’s unique needs, ensuring they receive the most comprehensive and exceptional care.
Schedule a free consultation to learn how Dr. Youssef Tahiri and our team can help give your child a bright future. Call us at (310) 255-4476 or email team@tahiriplasticsurgery.com.
You can also visit our state-of-the-art, infection-free, and AAAHC (Accreditation Association for Ambulatory Health Care) accredited facility at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.