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Learning your child may have or has Goldenhar syndrome (GS) can be frightening and overwhelming. 

You likely feel lost, anxious, and filled with questions and concerns like:

  • What causes this congenital condition?
  • Is there a way to treat or fix this birth defect? 
  • What does a GS diagnosis mean for my child’s future?
  • How can I help them deal with the challenges of having GS? 
  • Where can I find support to ensure my child can live a complete and active life with GS? 

Here’s the unfortunate truth: You and your child with Goldenhar syndrome will face challenges. 

It’s natural to feel scared and want answers. However, it’s also essential to remember this: No matter how disheartening your situation, there is hope. 

While we can’t make your baby’s condition disappear entirely, Dr. Youseff Tahiri can provide comprehensive solutions that significantly improve your child’s quality of life.

From addressing facial asymmetry through surgical intervention to helping you understand everything there is to know about Goldenhar syndrome, everyone at the Los Angeles Ear and Craniofacial Center is equipped to make a real difference in your child’s future.

This write-up aims to provide comfort and information, giving you insight into Goldenhar syndrome, its effects, and the available treatment options via Dr. Tahiri’s world-renowned expertise.

If you have any concerns you’d want addressed, please don’t hesitate to contact us. Call (310) 255-4476 or email to schedule a free Skype consultation.

What Is Goldenhar Syndrome?

Imagine waking up one day to find that your perfect little baby has been diagnosed with something you’ve never heard of—Goldenhar syndrome (GS).

Your mind races with questions, fears, and uncertainties. Here’s where knowledge becomes your greatest ally.

“Know thy enemy.” It’s an overused adage. But understanding what you’re up against can be invaluable, especially when the challenge is a rare congenital anomaly like GS.

So, what is Goldenhar syndrome? In a nutshell, GS is a congenital condition that affects the development of the eyes, ears, and spine, resulting in craniofacial anomalies.

Have you heard of this description before? It’s not surprising. After all, Goldenhar syndrome goes by various other names, such as the following:

  • Facio-auriculo-vertebral dysplasia
  • First and second branchial arch dysplasia
  • Unilateral craniofacial microsomia
  • Unilateral mandibulofacial dysostosis
  • Lateral facial dysplasia
  • Oculo-auriculo-vertebral spectrum (OAVS)
  • Otomandibular dysostosis
  • Velocardiofacial syndrome

Regardless of what name you choose to call it, GS can lead to a wide range of developmental challenges and physical deformities, making understanding it crucial for caring for your child.

What Causes Goldenhar Syndrome?

Unfortunately, despite ongoing research, the root of Goldenhar syndrome remains a mystery. No one knows whether nutritional and environmental factors or faulty instructions in your baby’s chromosomes are to blame. 

That said, studies indicate that GS results from a change in your baby’s chromosome, a DNA (deoxyribonucleic acid) package. However, researchers don’t know what causes that change. 

Rarely, or in up to 2% of cases, one or both parents may pass the genetic disorder to their children.

Regardless of the actual cause, Goldenhar syndrome disrupts the formation of the first and second branchial arches—the building blocks of your child’s craniofacial features.

As a result of this genetic disturbance, your child may be born with various anomalies, most typically facial asymmetry or hemifacial microsomia (underdevelopment on one side of the face).

In severe cases of Goldenhar syndrome, however, the clinical presentation of GS can also include skeletal deformities that can affect your child’s gastrointestinal system, heart, lungs, and kidneys.

We understand why you might feel like pointing fingers when you see the obstacles your child goes through with GS. You might even start blaming yourself.

Did you do something wrong during the pregnancy? Was your doctor not attentive enough? How did this situation happen? 

Many congenital disorders can be traced to genetic mutations. For instance, Treacher Collins syndrome (TCS), which also causes developmental abnormalities, results from a mutation in the TCOF1 gene.

This specific gene produces the treacle protein, critical in your baby’s facial cartilage, bone, and connective tissue development.

Risk Factors

Researchers and medical professionals believe several risk factors may increase an individual’s chances of having Goldenhar syndrome.

The following may contribute to the malformations seen in this condition:

  • Certain medications: Specific drugs taken during pregnancy, such as thalidomide, retinoic acid, cocaine, tamoxifen, and anticoagulants, have been linked to congenital disabilities.
  • Other factors: Health conditions, such as diabetes, malnutrition, or exposure to certain substances like tobacco during pregnancy, may also contribute to craniofacial anomalies linked to cardiac, vertebral, renal, and central nervous system defects.

For example, research shows that infants born to diabetic mothers are 200 to 400 times more likely to develop caudal regression (a nervous system anomaly linked to GS) than infants born to women without diabetes. 

Symptoms of caudal regression include urinary tract infections, bowel problems, kidney damage due to bladder dysfunction, and lower limb paralysis.

Please understand, however, that these are potential risk factors—potential being the keyword. So, don’t panic and worry too much.

Instead, learn all you can about Goldenhar syndrome. It may help you prepare for and overcome the challenges you and your child may face.

What Is the Triad of Goldenhar Syndrome?

Maurice Goldenhar, the Swiss ophthalmologist and researcher who first described the condition in 1952, characterizes Goldenhar syndrome as a triad, which essentially means a set of three distinctive features:

  • Mandibular hypoplasia resulting in facial asymmetry: Micrognathia or mandibular hypoplasia is a common manifestation of Goldenhar syndrome.

It makes the jaw smaller than usual, which leads to facial asymmetry and, in a worst-case scenario, breathing problems due to blocked airways.

  • Eye (oculo) and ear (auriculo) anomalies: Children with Goldenhar syndrome may be born with eye and ear deformities.

         Ocular presentations of GS typically include the following:

      • Smaller eyes (microphthalmia)
      • White-yellow or pinkish growths (epibulbar dermoid)
      • A notch in the eye (coloboma)

         Auricular problems can appear as the following:

      • Preauricular skin tags
      • Underdeveloped ears (microtia)
      • Closed ear canals (atresia)
      • Missing external ears (anotia)
  • Vertebral anomalies: The spine may be underdeveloped (hemivertebrae) or fused. Sometimes, GS causes spine curvature (scoliosis).

Remember that oculo-auriculo-vertebral dysplasia or Goldenhar syndrome can affect each child differently. Not everyone will exhibit a feature from each of the triad of anomalies. 

In severe cases, symptoms of Goldenhar syndrome can also include heart defects, renal complications, and central nervous system anomalies. However, you’re not alone.

If you have any concerns, don’t hesitate to contact us. With Dr. Youseff Tahiri at the helm, our compassionate team members are always ready to listen, answer questions, and recommend solutions.

 Call (310) 255-4476 or email to schedule a free Skype consultation. Alternatively, you can visit us at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.

How Common Is Goldenhar Syndrome?

Do you have a child with Goldenhar syndrome and are considering having another baby? Here are facts you need to know:

  • Goldenhar Syndrome is rare, affecting only one in every 3,500 to 25,000 babies.
  • GS is slightly more common in boys than girls. However, there’s no known link to race or ethnicity.
  • Sibling recurrence of 2% to 3% was reported for Goldenhar syndrome. In other words, there is a 97% to 98% chance that the condition won’t occur in your future children if you already have a child with GS.

Still, in some cases, Goldenhar syndrome can occur in families with a history of the condition, suggesting a possible autosomal dominant inheritance pattern.

For context, an autosomal condition means your child may acquire GS if you or your partner’s family have it. On the other hand, a recessive condition means both the parents’ families must have GS to pass it down.

What Are the Eye Problems Associated With Goldenhar Syndrome?

One of the distinctive clinical presentations of Goldenhar syndrome is an ocular anomaly. Although this congenital disorder can manifest in various ways, some of the possibilities it can affect your baby’s eyes include the following:

  • Microphthalmia: Sometimes, one or both of your child’s eyes may be abnormally small.
  • Dermoid cysts on the eye: These tumors are usually benign or noncancerous.
  • Coloboma: This anomaly appears as a notch in your baby’s eye structure.
  • Strabismus: Sometimes, GS can cause your child to have crossed eyes.

Unfortunately, due to these abnormalities, your child may experience visual impairments. If you notice any concerns about your child’s vision, it’s crucial that you consult with an ophthalmologist (eye doctor).

You can also contact us. We’d happily walk you through every step of your journey, answer any questions, and connect you with healthcare providers and resources.

How Is Goldenhar Syndrome Diagnosed?

You may want to find out if your baby has Goldenhar syndrome or get a second opinion from your child’s pediatric specialist on a previous diagnosis.

Generally speaking, diagnosing GS involves a comprehensive clinical assessment of your child’s vertebral, cranial, and facial structures to identify anomalies.

This process is supported by imaging studies like MRIs (magnetic resonance imaging), CT (computed tomography) scans, and X-rays.

Are you worried that your child may have Goldenhar syndrome? Call (310) 255-4476 or email to schedule a thorough diagnosis from Dr. Tahiri.

If you don’t have time to visit our Los Angeles Ear and Craniofacial Center, you can send images of your baby’s symptoms via our contact form for Dr. Tahiri to evaluate.

“How Do I Know if My Child Will Be Born With Goldenhar?”

While most Goldenhar syndrome diagnoses are done postnatally, there are ways to determine if your baby will be born with the condition.

One avenue is a prenatal ultrasound which lets you check your unborn child’s vitals, such as size and heart rate. 

In some cases, an ultrasound can also help detect craniofacial features that may indicate GS. However, a physical examination must still be done postnatally to confirm and identify the anomalies.

If ultrasound does reveal potential signs of GS, like a cleft palate or an underdeveloped mandible (micrognathia), other tests, such as a fetal MRI or echocardiogram (heart ultrasound), may be conducted.

What Genes Are Responsible for Goldenhar?

As of June 2024, researchers are still unaware as to what causes Goldenhar syndrome. However, research suggests that it’s caused by chromosomal abnormalities.

We all have 23 chromosome pairs in almost every cell of our body. Think of these chromosomes as instruction manuals that tell the body how to build itself.

Unfortunately, sometimes, these instructions get mixed up during the formation of the egg or the sperm due to factors like the mother’s age or the environment.

When these genetic disruptions do occur, malformations may appear. For instance, some children with facial anomalies and intellectual disabilities have the chromosomal abnormality, ring 21 chromosome.

While we’re yet to pinpoint the genetic material explicitly responsible for Goldenhar syndrome, medical professionals do have suspects.

The chromosomal aberrations (abnormalities) believed to cause GS include the following:

3del(5p) del(22q)
del(6q) dup(22q)
del(8q)(161) Recombinant chromosome 18
del(18q) Ring 21 chromosome

How Can Parents Help?

The unfortunate reality is that your child with GS will face physical difficulties like conductive hearing loss and visual impairment.

Chances are high that because of their unusual appearance, they will also experience psychosocial and emotional challenges from bullying and social stigma.

The good news is that you can support them in various ways to ensure they lead a fulfilling and active life through the following:

General Protocol

If your baby has been diagnosed with Goldenhar syndrome, the most effective way to ensure they receive the care they need is to consult various medical specialists.

After all, GS can present itself in several ways. So, a multidisciplinary approach can be valuable in ensuring your child gets a comprehensive treatment plan tailored to their unique situation.

The healthcare professionals you should consider approaching can include:

  • Ophthalmology experts
  • Otolaryngologists (ear, nose, and throat doctors)
  • Orthodontists (teeth and jaw alignment specialists)

If your child’s symptoms include facial anomalies, such as a cleft lip or macrostomia (enlarged mouth), you can also seek help from plastic surgeons.

Here’s where Dr. Youseff Tahiri, a double-board-certified reconstructive surgeon with a subspecialty in craniofacial surgery, comes in.

 Call (310) 255-4476 or email to find out how Dr. Tahiri and the Los Angeles Ear and Craniofacial Center can help you help your baby.

Newborns to Two Years of Age

If your child is two years old or younger, your primary focus should be to ensure they have no breathing, feeding, or sleeping difficulties, as facial deformities can present challenges in these areas.

Toddlers Between Two and Four Years of Age

If your toddler is between two and four years old and has severe jaw underdevelopment, such as mandibular hypoplasia, you should consider specialized procedures using grafts and devices for correction.

Young Children Through Six to Eight Years Old

Once your child is in the six-to-eight-year-old age group, you may consider corrective surgery to address external ear deformities like microtia. Doing so may help restore facial balance and prevent harassment at school.


Your child’s facial structures are more developed in their teenage years, making some procedures, like jaw corrections, more timely since they can better tolerate them.

Until the child’s facial structures are fully grown, it’s best to address other difficulties, such as speech, hearing (like deafness), and other organ deficits like vestibular fistulas (anorectal malformation).


While the outlook for children with Goldenhar syndrome varies on the severity of the condition and the success of interventions, many lead active, fulfilling lives.

However, ongoing medical care will be necessary in most cases. The good news is that we have the expertise to help you and would love to. Contact us, and we’ll work to craft a comprehensive treatment plan tailored to address your baby’s unique needs.

How Is Goldenhar Syndrome Treated?

Like many congenital disorders, Goldenhar syndrome unfortunately doesn’t have a cure. It’s a lifelong condition.

While it’s no consolation, there are treatment options that can help improve your child’s bodily functions and quality of life.

For instance, bone-conduction hearing aids may help restore your baby’s auricular abilities. On the other hand, eye surgery can solve visual problems caused by colobomas or epibulbar dermoids.

Remember, there are no one-size-fits-all solutions for Goldenhar syndrome. After all, every child’s case is unique, and so too should their treatment plan. 

Our team members at the Los Angeles Ear and Craniofacial Center are committed to providing your child or loved one with exceptional and comprehensive care.

Our professional team will ensure your child receives the most appropriate and cutting-edge treatment option. All you need to do is reach out.

Can Goldenhar Syndrome Facial Irregularities Be Corrected?

If you’re concerned that your child’s facial deformities will prevent them from leading a regular life, don’t worry. In many cases, plastic surgery can be an avenue you can pursue.

And who better to perform these reconstructive procedures than Dr. Youseff Tahiri?

From microtia repair and cleft lip surgery to skull reshaping and orthognathic (corrective jaw) surgery, Dr. Tahiri offers various surgical options to help correct your child’s facial asymmetry and irregularities.

Here are more reasons you should choose Dr. Tahiri to treat the symptoms of Goldenhar syndrome over other plastic and reconstructive surgeons:

  • Dr. John Reinisch, the father of the MEDPOR™ ear reconstruction technique, personally chose Dr. Youssef Tahiri to join him and continue his ear reconstruction practice.
  • Dr. Youssef Tahiri is certified by the American Board of Plastic Surgery and the Royal College of Physicians and Surgeons of Canada.
  • Dr. Tahiri utilizes the most innovative, cutting-edge pediatric plastic and craniofacial surgery techniques.
  • Dr. Tahiri is known worldwide and sought by international patients. He leads a team of medical professionals who’d gladly walk you through the treatment process, including assisting you with travel and accommodation arrangements. 
  • Dr. Tahiri is contracted with most—if not all—insurance companies.
  • Dr. Tahiri gives free Skype consultations. You can even send him images of your child or loved one with (or suspected to have) Goldenhar Syndrome via our contact form for his evaluation.

I have been communicating with Dr. Tahiri and [his] office staff since 2020. My daughter who [has] bilateral microtia and atresia finally just had her left ear reconstruction. This office worked tirelessly with [the] insurance [company] and with me, Mom. Always responding in a timely fashion and always kind. I cannot say enough about our experience.

The surgery center is immaculate, the staff very professional and nice. The doctor himself is AMAZING!!! We are so thrilled with her big ear and looking forward to the other side. The doctor has a gift, he is an artist and so great with kids. 5 stars all around.

Kate Faroni

For more information on how Dr. Tahiri and the Los Angeles Ear and Craniofacial Center can correct your child’s facial anomalies, call (310) 255-4476 or email

How Can I Prevent Goldenhar Syndrome?

As they say, “Prevention is better than cure.” Unfortunately, since the precise cause of Goldenhar syndrome is unknown, there’s no specific way to prevent your child from getting this congenital disorder.

However, that doesn’t mean you should forego or ignore prenatal care. In other words, you would still want to avoid medications with retinoic acid and maintain a healthy diet and lifestyle.

Following your doctor’s advice and recommendations is crucial to ensuring your child’s overall health and well-being.

At the same time, consider genetic testing and counseling if you have a family history of GS. These programs can help you understand the risks of having a child with the condition.

Moreover, genetic testing can help rule out other genetic disorders that share symptoms with Goldenhar syndrome.

What Else Should I Ask My Doctor?

It’s perfectly normal to have many concerns following a Goldenhar syndrome diagnosis.

While you should ask all you can to better understand the implications of this congenital condition, some questions are more critical than others.

After all, the answers to these essential queries can be valuable in helping you care for your child. So, here are the questions you may want to ask your healthcare provider:

  • What difficulties will my child face?
  • Are there treatment options that can address specific challenges related to GS?
  • What support groups or resources can help me and my family overcome GS?

If you have questions that will assist you in making informed decisions regarding your baby with Goldenhar syndrome, don’t hesitate to ask us. Dr. Tahiri and our staff members are ready to ease your concerns.

Is Goldenhar Syndrome a Disability?

Goldenhar Syndrome can cause hearing and vision problems, which are considered disabilities. In some cases, GS may even cause intellectual disabilities. 

Research shows that developmental delays and intellectual disability occur in 15% of individuals with Goldenhar syndrome. It may even disrupt motor functions, resulting in difficulty processing information and communicating thoughts.

Still, your love and encouragement can be powerful tools to help alleviate your child’s anxiety, low self-esteem, and feelings of abnormality.

So, instead of treating your child as a person with a disability, let them explore and pursue hobbies and activities like any average person. Doing so can go a long way in allowing them to live a productive life.

What Conditions Have Similar Clinical Presentations As Goldenhar Syndrome?

Some congenital conditions manifest themselves similarly to Goldenhar syndrome, making diagnoses challenging.

Disorders that have similar symptoms, such as facial asymmetry, vertebral defects, and auricular anomalies like microtia, as Goldenhar syndrome, include the following:

  • Branchiootorenal (BOR) syndrome
  • CHARGE (coloboma, heart defects, atresia choanae, retarded growth and mental development, genital abnormalities, and ear abnormalities) association
  • Townes-Brocks syndrome
  • Treacher Collins syndrome
  • VACTERL (vertebral anomalies, anorectal anomalies, cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies) association

A Note From Dr. Youssef Tahiri

We understand that a diagnosis of Goldenhar syndrome can be overwhelming. But as medical professionals specializing in craniofacial surgery, we want to assure you that there’s hope.

While GS is a complex condition, treatment options are available that can address many of your child’s challenges.

We treat our patients like family at the Los Angeles Ear and Craniofacial Center. You can be at ease knowing that our team members are committed to providing your baby with the most comprehensive care.

Like you, we want the best for your child. That’s why we’ll work with you to develop a personalized treatment plan addressing their unique challenges and needs.

If you have any questions or concerns, please don’t hesitate to contact us. We’re here to help you and your child on this journey.

 Call (310) 255-4476 or email to schedule a free Skype consultation. You can also visit us at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.

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