Hearing that your child has Goldenhar syndrome (GS) can feel overwhelming—especially if it’s a condition you’re unfamiliar with.
It’s normal to have questions. What caused this? Could it be related to something that happened during pregnancy? What does this diagnosis mean for your child’s future? And most importantly, how can you help them navigate the challenges ahead?
As a caring and devoted parent, your top priority is ensuring your child has every opportunity to live a confident and fulfilling life.
It’s completely valid to feel uncertain at first. While Goldenhar syndrome presents unique challenges and doesn’t currently have a cure, there’s hope. With the right care and support, children with GS can thrive, overcoming hurdles and living life to the fullest.
At The Los Angeles Ear and Craniofacial Center, Dr. Youssef Tahiri and his dedicated team are here to guide you. We specialize in caring for children with congenital conditions like Goldenhar syndrome, offering personalized and expert treatment to improve quality of life and build confidence for the future.
This guide was designed to help you better understand Goldenhar syndrome—its symptoms, potential complications, and the cutting-edge surgical treatments available. With Dr. Tahiri’s world-class expertise, we’re here to support your child’s journey every step of the way.
If you have questions or want to explore treatment options, we’re just a call or email away. Reach out to our team at (310) 255-4476 or email us at team@tahiriplasticsurgery.com to schedule a free Skype consultation and learn how we can help.
You’re not alone in this—we’re here to help your child thrive.
What Is Goldenhar Syndrome?
Few moments in life are more heart-wrenching than hearing your precious baby has been diagnosed with a life-altering condition. It’s even harder when that condition is something unfamiliar—like Goldenhar syndrome (GS).
When you first got the news, it likely felt like the ground shifted beneath you. Your heart sank, your mind raced with questions, and fear may have crept in. That’s a perfectly natural response.
Goldenhar syndrome can feel overwhelming at first, but here’s the good news: you’re not powerless in this journey. Knowledge is a powerful ally. By understanding GS and learning how to navigate the challenges it brings, you can help your child thrive and build a fulfilling life.
So, what is Goldenhar syndrome?
In simple terms, GS is a congenital condition—meaning it’s present at birth—that affects the development of certain parts of the face, eyes, ears, and spine. These craniofacial differences can range from mild to more pronounced, making each case unique.
You might have heard Goldenhar syndrome referred to by other names, which can feel confusing at first. Here are some alternative terms you may encounter:
- Facio-auriculo-vertebral dysplasia
- First and second branchial arch syndrome
- Lateral facial dysplasia
- Otomandibular dysostosis
- Unilateral craniofacial microsomia
- Oculo-auriculo-vertebral spectrum (OAVS)
No matter what it’s called, Goldenhar syndrome brings developmental and physical differences that require understanding, care, and support. By seeking out information and taking proactive steps, you’re already helping your child on their journey.
Remember: every step forward, no matter how small, brings you closer to ensuring your child has the resources and care they need to thrive. You’ve got this.
How Common Is Goldenhar Syndrome?
Does your child have Goldenhar syndrome, and are you considering having another baby? Here are some facts to consider:
- Goldenhar Syndrome cases are rare. GS affects only one baby in every 3,500 to 25,000 live births.
- The likelihood of Goldenhar syndrome recurring in siblings is reported to be 2% to 3%. If you already have a child with GS, there’s a 97% to 98% chance that your future children won’t inherit the condition.
Still, in some cases, Goldenhar syndrome can occur in families with a history of the condition, suggesting a possible autosomal dominant inheritance pattern.
An autosomal condition means your child may develop GS if you or your partner’s family have it. Meanwhile, a recessive condition means both the parents’ families must have GS to pass it down.
What Are the Signs and Symptoms of Goldenhar Syndrome?
In 1952, Swiss ophthalmologist Maurice Goldenhar identified a rare disease that now bears his name. He described Goldenhar syndrome (GS) as a “triad”—a cluster of three key features that help define the condition.
Eye and Ear Abnormalities
GS often affects the eyes (oculo) and ears (auriculo). These can include:
Eye-Related Presentations: | Ear-Related Presentations: |
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Spine Anomalies
GS can also impact spinal development, resulting in underdeveloped vertebrae (hemivertebrae), fused vertebrae, or abnormal spinal curves (scoliosis)
Facial Asymmetry and Jaw Issues
One hallmark of GS is mandibular hypoplasia (micrognathia), where the jawbone is smaller than usual. This condition can cause the face to appear uneven or imbalanced (facial asymmetry).
In severe cases, a smaller jaw can block airways, leading to difficulty breathing.
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.
Some studies indicate that GS results from a change in your baby’s chromosome, a DNA (deoxyribonucleic acid) package. That said, researchers don’t know what causes that change.
In rare cases—about 2%—Goldenhar syndrome may be inherited from one or both parents. Regardless of its origin, this genetic disorder disrupts the development of the first and second branchial arches, which are crucial for forming a child’s craniofacial features.
This disruption often leads to anomalies like facial asymmetry or hemifacial microsomia (uneven or underdeveloped facial features on one side).
Many congenital disorders stem from genetic mutations. For example, Treacher Collins syndrome (a condition affecting craniofacial formation) results from a TCOF1 gene mutation, which affects the treacle protein essential for developing facial cartilage, bone, and connective tissue.
Researchers suspect several risk factors may raise the likelihood of Goldenhar syndrome, contributing to its characteristic malformations:
- Medications: Some factors during pregnancy can increase the risk of developing congenital conditions, including craniofacial anomalies and other defects associated with Goldenhar syndrome (GS).
Certain drugs have been linked to congenital disabilities when taken during pregnancy, including:
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- Thalidomide
- Retinoic acid
- Cocaine
- Tamoxifen
- Anticoagulants
- Associated risks: Health conditions and lifestyle factors can also play a role, such as:
- Diabetes: 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.
- Diabetes: 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.
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- Malnutrition
- Exposure to substances like tobacco
- Malnutrition
Remember, these are potential risk factors, so don’t panic and worry too much. We understand why you might feel like pointing fingers when you see the obstacles your child with GS goes through. 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?
Instead of worrying, focus on learning all you can about Goldenhar syndrome. This practice may help you prepare for and overcome the challenges you and your child may face.
How Is Goldenhar Syndrome Diagnosed?
Are you worried your baby might have Goldenhar syndrome? Or maybe you’re looking for a second opinion on a previous diagnosis? Whatever the case, getting clarity is the first step toward peace of mind.
Diagnosing Goldenhar syndrome starts with a detailed clinical assessment. This means evaluating your child’s vertebral, cranial, and facial structures for irregularities.
To investigate further, doctors often use imaging tools like MRI (magnetic resonance imaging), CT (computed tomography) scans, and X-rays to confirm the findings.
Goldenhar syndrome is typically diagnosed after birth, but prenatal screening can offer early clues.
For instance, a prenatal ultrasound can check your baby’s size, heart rate, and sometimes facial features that suggest Goldenhar syndrome.
That said, a postnatal physical exam is still required to confirm and assess anomalies. If an ultrasound shows signs like a cleft palate or underdeveloped jaw (micrognathia), further tests such as a fetal MRI or echocardiogram (heart ultrasound) may be recommended.
If you’re concerned, don’t wait. Contact Dr. Tahiri for a thorough evaluation. Call us at (310) 255-4476 or email team@tahiriplasticsurgery.com to schedule a consultation.
You can also send images of your baby’s symptoms through our contact form, and Dr. Tahiri will personally review them. Whatever the diagnosis, you’re not alone—we’re here to help.
Does Goldenhar Syndrome Affect Life Expectancy?
With the right treatment, patients with Goldenhar syndrome typically have a normal life expectancy. That said, complications can arise depending on the severity of craniofacial issues.
How Is Goldenhar Syndrome Treated?
Goldenhar syndrome doesn’t have a cure—it’s a lifelong condition. Fortunately, there are treatments that can significantly improve your child’s quality of life and daily functioning.
For instance, bone-conduction hearing aids can help restore auditory abilities. Meanwhile, eye surgeries can address issues like colobomas (gaps in eye structure) or epibulbar dermoids (growths on the eyeball).
In uncomplicated cases, the management approach typically revolves around cosmetic surgeries and interventions based on the patient’s age and specific symptoms.
Common procedures include reconstructing facial structures using rib bone grafts to correct mandibular hypoplasia, lengthening an underdeveloped maxilla with bone distraction, and performing cleft lip and palate surgeries.
Orthodontic correction is often completed after jaw growth stabilizes, and external ear reconstructions are usually performed between the ages of 6 and 8.
For milder cases, jaw surgeries can be performed in the early teens, with epibulbar dermoids (growths on the eye) being surgically excised. These surgeries help correct structural anomalies in the eyes and ears, improving both appearance and function.
Early intervention becomes critical in more severe cases of Goldenhar syndrome or hemifacial microsomia.
Some patients may require immediate procedures due to complications like obstructive sleep apnea, jaw problems that restrict diet and nutrition, and vision problems caused by eyelid abnormalities.
For individuals with bilateral microtia and atresia, hearing assistance or reconstructive surgeries are essential to prevent permanent deaf mutism. Additionally, renal and heart ultrasounds may be advised to monitor for potential congenital disabilities in those areas.
If you’re considering treatment options, it could be vital to consult a clinical specialist for advice and participate in trials.
There’s no cookie-cutter approach to treating Goldenhar syndrome because every child’s situation is unique. That’s why personalized care is essential.
At The Los Angeles Ear and Craniofacial Center, we’re committed to giving your child the best possible care. Our team specializes in crafting individualized, cutting-edge treatment plans tailored to your child’s needs.
Ready to take the next step? Let us help. Reach out today to explore the options available for your child.
Follow-Up Care
If your child has Goldenhar syndrome, ongoing care from an orthopedic specialist is crucial—even into adulthood.
For those who’ve undergone spinal fusion surgery, follow-up visits are important for proper healing and alignment.
Your child should see their orthopedic surgeon about one to two weeks after the procedure, with additional check-ins at three months and six months post-surgery.
Children with Goldenhar syndrome may need a team of specialists to address the various systems the condition can impact. You might have to consult these experts for your child’s follow-up care:
- Speech therapy specialist: To overcome speech and feeding difficulties
- Pulmonologist: To manage breathing issues that might arise
- Audiologist: To evaluate hearing concerns and recommend solutions like hearing aids or cochlear implants
- Physical and occupational therapists: To help your child develop better physical dexterity and functional skills
- Cardiologist: To assess and treat potential heart-related abnormalities
- Urologist: To address issues with kidney or bladder function
- Orthopedist: To evaluate and treat problems such as spine instability or rib cage deformities
A carefully coordinated care plan helps ensure your child’s unique needs are fully addressed. Regular monitoring helps catch potential issues early and supports long-term health.
Clinical Trials and Studies
Clinical studies help us understand the various treatment pathways, the risks involved, and the best approaches for both cosmetic improvements and functional enhancements.
Additionally, studies shed light on the condition’s psychosocial impact, emphasizing the need for family support, decision-making guidance, and access to resources for patients and their families.
Currently, the prognosis for uncomplicated cases is generally positive, but ongoing research through clinical trials continues to advance treatment options and provide deeper insights into this rare disorder.
The exact cause of Goldenhar syndrome remains a mystery, but research suggests chromosomal abnormalities are the likely culprit.
Chromosomes are like the body’s instruction manual. We have 23 pairs in nearly every cell, guiding everything from how our body forms to how it functions.
These instructions can get scrambled during egg or sperm formation. This could happen due to various factors, such as maternal age or environmental influences.
When these genetic disruptions occur, malformations can arise, leading to conditions like Goldenhar syndrome.
For example, some children with facial anomalies and developmental challenges have been found to have a chromosomal abnormality known as the ring 21 chromosome.
While we haven’t pinpointed the exact genetic culprit behind Goldenhar syndrome yet, there are a few suspect chromosomal abnormalities that researchers are focusing on:
3del(5p) | del(22q) |
del(6q) | dup(22q) |
del(8q)(161) | Recombinant chromosome 18 |
del(18q) | Ring 21 chromosome |
Can Goldenhar Syndrome Facial Irregularities Be Corrected?
If you’re worried that your child’s facial deformities might hold them back from living a happy, active life, put your worries aside. Plastic surgery could be the solution—and there’s no one better to handle it than Dr. Youssef Tahiri.
Dr. Tahiri specializes in a wide range of reconstructive procedures, including:
- Microtia repair (reconstructing the ear)
- Cleft lip surgery
- Skull reshaping
- Orthognathic surgery (corrective jaw surgery)
These procedures are designed to address facial asymmetry and other irregularities caused by Goldenhar syndrome, giving your child a chance to look and feel more confident.
Here’s why Dr. Tahiri is the best option for your child’s care:
Dr. Youssef Tahiri is certified by the American Board of Plastic Surgery and the Royal College of Physicians and Surgeons of Canada.
Dr. John Reinisch, the father of the PPE (porous polyethylene) ear reconstruction technique, handpicked him to join him at the forefront of ear reconstruction surgery.
Dr. Tahiri employs innovative, comprehensive, personalized plastic and craniofacial surgery techniques.
As a world-renowned surgeon, Dr. Tahiri is sought by international patients. He leads a team of medical professionals who will support you throughout the treatment process, including assisting you with travel and accommodation arrangements.
Dr. Tahiri has also contracted with most—if not all—insurance companies.
Ready to take the first step toward your child’s well-being? Contact us—Dr. Tahiri offers 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 worked in the health care field for 15 years and am delighted to say that Dr. Tahiri is one of the [kindest and most] personable surgeons I’ve ever met. He repaired our son’s cleft lip and palate with great care and skill. Our son has recovered beautifully from his two surgeries with Dr. Tahiri; he is doing great and looks amazing. Dr. Tahiri made us feel safe and comfortable with everything. I don’t know where we would be without Dr. Tahiri and I highly recommend him.”
A review from Healthgrades.com
“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, [and] the staff [is] very professional and nice. The doctor himself is AMAZING!!! We are so thrilled with [our daughter’s] big ear and looking forward to the other side. The doctor has a gift. [H]e is an artist and so great with kids. 5 stars all around.”
Kate Faroni
How Can Parents Help?
It can be heartbreaking to know your child with GS will face physical challenges, like hearing loss and vision impairment. On top of that, they may struggle with the emotional weight of being judged or bullied because of their appearance.
The good news is that your unwavering support can help them overcome these hurdles. With your love and encouragement, they can thrive and lead a fulfilling, active life.
When your baby is diagnosed with Goldenhar syndrome, the best path forward is a team-based approach. This condition can affect various body parts, so consulting multiple specialists ensures your child gets care tailored to their unique needs.
Here’s who you should have on your side:
- Plastic Surgeons: For facial anomalies like cleft lip or macrostomia (an enlarged mouth)
- Ophthalmologists: For any eye-related concerns
- Otolaryngologists (ENTs): To address ear, nose, and throat issues
- Orthodontists: To help with teeth and jaw alignment
If your child is two years old or younger, your primary focus should be ensuring they don’t have breathing, feeding, or sleeping difficulties, as facial deformities can present challenges in these areas.
Say your toddler is between two and four years old and has severe jaw underdevelopment, such as mandibular hypoplasia. In that case, you should consider specialized procedures using grafts and devices to correct it.
When your child reaches their teenage years, their facial structures are more developed. This period in their lives makes procedures like jaw corrections more effective and easier for them to tolerate.
In the meantime, the focus should be on addressing other challenges. Speech difficulties, hearing loss (including deafness), and issues like vestibular fistulas (a type of anorectal malformation) are priorities that can be managed while your child continues to grow.
While the outlook for children with Goldenhar syndrome varies on the severity of the condition and the success of interventions, many kids with the condition can lead active, fulfilling lives.
However, ongoing medical care will be necessary in most cases. That’s where we can help—we have the expertise to help you. Contact us, and we’ll work to craft a comprehensive treatment plan tailored to address your baby’s unique needs.
Ready to take the next step? Call (310) 255-4476 or email team@tahiriplasticsurgery.com to learn how Dr. Tahiri and The Los Angeles Ear and Craniofacial Center can support your baby’s care journey. Let’s work together to help your child thrive.
“What Else Should I Ask My Doctor?”
A Goldenhar syndrome diagnosis can feel overwhelming, and it’s natural to have a flood of questions. The key is to ask the right people to help you understand the condition and guide you in caring for your child.
Here are a few critical questions to bring up with your healthcare provider:
- What challenges might my child face as they grow?
- What treatments are available to address specific symptoms or improve quality of life?
- Are there support groups or resources for families navigating Goldenhar syndrome?
The answers to these questions can clarify and help you make informed decisions for your child’s care.
If you’re feeling uncertain or have additional questions, we’re here to help. Dr. Tahiri and our compassionate team are ready to provide answers, ease your concerns, and guide you through this journey. Don’t hesitate to reach out—we’re just a call or message away.
“How Can I Prevent Goldenhar Syndrome?”
As the saying goes, “An ounce of prevention is worth a pound of cure.” Unfortunately, since the root cause of Goldenhar syndrome is unknown, there’s no specific way to prevent your baby from being born with this condition.
That said, that doesn’t mean you should ignore or forego prenatal care. In other words, you would still want to avoid medications with retinoic acid and maintain a healthy diet and lifestyle.
Following your physician’s advice and recommendations is vital to ensuring your child’s overall health and well-being.
You may 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.
Genetic testing can also help rule out other genetic disorders that share symptoms with Goldenhar syndrome.
A Note From Dr. Tahiri
We understand that a diagnosis of Goldenhar syndrome can be nerve-wracking. But as a seasoned doctor specializing in craniofacial surgery, Dr. Tahiri wants to assure you that there’s hope.
GS is a complex condition, but our advanced treatment options 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 staff members are committed to providing your baby with the most comprehensive and personalized care.
Like you, we want the best for your child. That’s why we’ll work with you to craft a treatment plan addressing their unique challenges and needs.
If you have any questions or concerns, don’t hesitate to contact us. We’re here to help you and your child on this journey.
Call (310) 255-4476 or email team@tahiriplasticsurgery.com to schedule a free Skype consultation. You can also visit us at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.
FAQs
1. Is Goldenhar syndrome a disability?
Goldenhar syndrome can lead to hearing and vision impairments, often classified as disabilities. In some instances, it may also cause intellectual challenges.
Studies also suggest that around 15% of people with Goldenhar syndrome experience developmental delays or intellectual disabilities.
Additionally, GS can affect motor skills, making it harder to process information and express thoughts clearly.
That said, your constant support and encouragement can help ease your child’s worries, improve their self-esteem, and reduce feelings of isolation. Rather than viewing your child solely through the lens of disability, encourage them to explore hobbies and activities just like anyone else.
This approach can make a world of difference in helping them lead fulfilling and meaningful lives.
2. What conditions have symptoms similar to Goldenhar syndrome?
Diagnosing Goldenhar syndrome isn’t always straightforward because its symptoms can overlap with other congenital conditions.
Several other disorders include facial asymmetry, spinal defects, and ear anomalies like microtia, which can complicate the process.
Here are some conditions with symptoms similar to Goldenhar syndrome:
- Branchiootorenal (BOR) syndrome
- CHARGE association: Includes coloboma (eye abnormalities), heart disease, atresia of the choanae (nasal passages), retarded growth and mental development, genital anomalies, and ear malformations and hearing loss.
- Townes-Brocks syndrome
- Treacher Collins syndrome
- VACTERL association: Features vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies.
Suppose you’re navigating a possible Goldenhar syndrome diagnosis. Understanding these distinctions can help you ask the right questions and ensure an accurate diagnosis. Let us know if you need guidance or a second opinion—our team is here to help.
3. What is a mild case of hemifacial microsomia?
In mild cases of hemifacial microsomia, the signs might be subtle—like a slightly smaller jaw or a small skin tag near an otherwise normal-looking ear.
But when hemifacial microsomia is more severe, the differences become more noticeable. One side of the face might be significantly smaller, and the ear could be misshapen or even completely absent.
Every case is unique, and understanding the degree of the condition is key to planning the right care. Let us help you navigate this journey with clarity and compassion.
4. What are the oral features of Goldenhar syndrome?
Goldenhar syndrome (GHS) often affects the mouth and jaw, leading to a range of oral issues. Some of the most common include:
- Cleft lip and palate
- Underdeveloped tongue (unilateral tongue hypoplasia)
- Underdeveloped upper and lower jaw arches (maxillary and mandibular hypoplasia)
- Small jaw (micrognathia)
- Enlarged gums (gingival hypertrophy)
- Delayed tooth development
- Extra teeth (supernumerary teeth)
- Tooth structure problems, like abnormalities of enamel and dentin
These clinical presentations can vary from child to child, and addressing them requires a personalized treatment plan. If you’re looking for guidance, we’re here to help every step of the way.