If your baby is born with Treacher Collins syndrome (TCS), the first things you may notice are craniofacial differences—perhaps a small lower jaw (mandible), malformed ears, or notched eyelids. But what likely weighs most heavily on your heart are the breathing and feeding challenges.
You might be wondering, “Will my baby be okay? Will these complications cut their life short?”
As a parent, the uncertainty can feel overwhelming. You’ve likely consulted specialists, researched endlessly, and weighed countless opinions. And yet, those lingering doubts persist: Are we doing enough? Is there more that can be done?
Here’s the truth: There is hope.
While the challenges of TCS can be daunting, children with this condition can live full, healthy lives—often just as long as those without the congenital (a trait that exists at birth) condition.
The key lies in early intervention and a personalized treatment plan designed for your child’s unique needs.
With the right care team, you can address your baby’s specific challenges—from breathing and feeding issues to craniofacial surgeries and therapies. That’s where The Los Angeles Ear and Craniofacial Center, led by board-certified plastic and reconstructive surgeon Dr. Youssef Tahiri, comes in.
Dr. Tahiri and his team combine decades of experience, cutting-edge techniques, and compassionate care to help children with TCS not just survive, but thrive.
From advanced surgical interventions to ongoing multidisciplinary support, their goal is to give your little one the best possible start—and you, the peace of mind you deserve.
Your baby’s future is bright. Let’s make it even brighter together.
Contact us today for a free consultation.
Call: (310) 255-4476
Email: team@tahiriplasticsurgery.com
Visit us: 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.
How Long Does a Person With Treacher Collins Syndrome Live?
Watching your child struggle to nurse or gasp for air is every parent’s worst nightmare. For families facing severe cases of Treacher Collins syndrome (TCS), these moments can feel overwhelming.
TCS is a congenital condition—present at birth—that affects the development of the skull and facial bones. Common symptoms include an underdeveloped lower jaw (mandible) and cleft palate, which can sometimes lead to life-threatening respiratory and feeding difficulties in affected individuals.
But here’s the good news: with the right care, individuals with TCS can live normal, healthy lifespans.
The key is early intervention and prompt medical attention. In severe cases, craniofacial abnormalities can pose immediate risks, but they’re not insurmountable.
A comprehensive diagnosis will help determine the severity of your child’s condition and guide you in making informed decisions about treatment options.
By addressing your child’s unique needs with a tailored care plan, you can give them the best chance at a full, thriving life.
Remember: With proper support and intervention, hope is always on the horizon.
What Is Treacher Collins Syndrome?
As its name implies, TCS is a syndrome. It’s a disorder with several distinctive symptoms that occur together, in this case, deformities affecting the bones and soft tissues in the face.
Do understand, however, that while children with TCS often have identifying facial features, it’s crucial to remember that this rare congenital condition affects everyone differently.
Depending on your baby’s unique case, their symptoms may range from barely noticeable to—if you’re reading this write-up—very severe, requiring immediate, sometimes lifelong, medical care.
Other Names for Treacher Collins Syndrome
Sometimes, a healthcare professional may tell you that your child has something other than TCS despite displaying the characteristic clinical features of the condition.
But don’t panic. This situation can happen because TCS is referred to by several names in medical literature, usually after the individual who contributed to our understanding of the disorder.
For context, Treacher Collins syndrome is named after Edward Treacher Collins, an English ophthalmologist who first described the congenital disorder in 1900.
However, TCS also goes by Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and Berry-Treacher Collins syndrome for renowned individuals:
- Adolphe Franceschetti
- David Klein
- George Andreas Berry
Other names for TCS include mandibulofacial dysostosis (MFD) and zygoauromandibular dysplasia, which are based on the parts of the face that the condition typically affects.
Although TCS’ various names can cause confusing visits to the doctor, remember that they all refer to the same condition: a group of congenital disabilities that affects your child’s craniofacial region.
Facts About Treacher Collins Syndrome
The saying, “What you don’t know can’t hurt you,” can save you much heartache. However, it doesn’t quite apply if your child has Treacher Collins syndrome.
After all, being in the dark is the last thing you’d want when dealing with a condition that can significantly affect your child’s life prospects. So, a more fitting proverb would be, “Knowledge is power.”
Fortunately, you’ve come to the right place if you’re looking for insight to navigate the challenges of TCS and make informed decisions for your precious little one’s care.
While we’ll discuss them in more detail later in this write-up, here are some quick facts about Treacher Collins syndrome:
- Life expectancy: Although severe cases with feeding or breathing problems may impact lifespan, children with TCS can have a normal life expectancy if they receive the necessary care.
- Severity: TCS can cause various issues, from conductive hearing loss to speech delays. However, clinical presentations vary significantly, with some children only having mild symptoms.
- Intelligence: TCS primarily affects the development of bones and soft tissue in the face. Fortunately, these craniofacial abnormalities don’t affect brain development and, by extension, intelligence.
- Prevalence: Treacher Collins syndrome is a relatively rare condition, affecting roughly 1 in 25,000 to 50,000 live births with a 1:1 male-to-female ratio.
- Etiology: Research suggests that TCS is a genetic condition. Various studies show that around 40% of children with TCS inherited the disorder from a parent.
How Common Is Treacher Collins Syndrome?
If your child is born with the characteristic facial features of TCS, it’s natural to have countless questions running through your mind—one of the first is likely, “What are the chances?”
While TCS is relatively uncommon compared to some other congenital conditions, it’s essential to remember that you’re not alone in this journey and that some children, unfortunately, have it worse.
For perspective, genetic disorders like Down syndrome, which is also characterized by distinct physical traits and developmental delays, occur in approximately 1 in 700 births.
In contrast, Treacher Collins syndrome affects about 1 in 25,000 to 50,000 babies. In other words, TCS is much less common, with a likelihood of around 0.004% to 0.002%.
It’s true. Your child having TCS may feel like you had a bad draw. However, you shouldn’t focus on the statistics. Instead, concentrate on the needs of your child.
Remember, regardless of the odds, every baby is unique and capable and deserves a life filled with love, growth, and possibility.
Causes of Treacher Collins Syndrome
When something undesirable happens, such as a TCS diagnosis, our instinct is to point fingers—to find who or what is responsible and rationalize the situation.
Some medical professionals propose that external factors, such as UV (ultraviolet) radiation from sunlight exposure and contracted viruses, can trigger congenital conditions like TCS.
However, the primary culprit believed to cause TCS is a genetic mutation. Genes are your child’s body’s blueprint, and unwanted changes can cause developmental problems.
In the case of Treacher Collins syndrome, researchers have identified the TCOF1 (treacle ribosome biogenesis factor 1) gene as a significant contributing factor.
After all, the TCOF1 gene plays a critical role in treacle protein production, a process essential to your baby’s facial cartilage, bone, and connective tissue development.
That said, studies have shown a link between TCS and other genetic material responsible for rRNA (ribosomal ribonucleic acid) transcription, formation, and, by extension, protein production, including:
- POLR1B (polymerase I subunit B)
- POLR1C (polymerase I subunit C)
- POLR1D (polymerase I subunit D)
Although these gene variations can occur as a new mutation, they’re often inherited, primarily following an autosomal dominant pattern or from a chromosome from one parent—the case in 40% of TCS presentations.
It’s worth mentioning, however, that, in rare instances, TCS can follow an autosomal recessive inheritance pattern, which requires both parents to have the mutated genes to pass down the condition.
Symptoms of Treacher Collins Syndrome
Signs of Treacher Collins syndrome are distinctive. Children with this genetic condition often share similar craniofacial abnormalities that often occur symmetrically or on both sides of the face, including:
- Microtia or absent or deformed external ears
- Atresia or missing or undersized inner ear openings
- Coloboma or a notch in the lower eyelids
- Downward-slanting or “sad” eyes
- Underdeveloped (hypoplastic) cheekbones
- Micrognathia (mandibular hypoplasia) or small lower jaws and chins
- Maxillary hypoplasia (pseudoprognathism) or diminutive upper jaws
Despite these symptoms, you can be confident your child will have normal intelligence. However, you should still be wary, as these clinical features can lead to other complications, such as:
- Hearing loss: Around half of children with TCS have hearing problems due to underdeveloped ear canals or middle ear bones.
- Vision problems: Some children with TCS have ophthalmologic issues, such as vision loss, congenital cataracts, strabismus (misaligned eyes), microphthalmia (small eyes), and anophthalmia (absent eyes).
- Respiratory difficulties: In severe cases, TCS’ craniofacial manifestations can lead to choanal stenosis or atresia (blocked or narrow nasal airways).
- Feeding and speech challenges: Some children with TCS have openings on the roof of the mouth (cleft palate) or upper lip (cleft lip), which can cause feeding and speech development challenges.
While these symptoms may sound concerning—and they are—TCS affects each child differently. That’s why getting a thorough and accurate assessment of your child’s case is vital.
Diagnosis of Treacher Collins Syndrome
Your child can lead a long, fulfilling life if they receive the appropriate medical care for their unique symptoms—”if” being the operative word. Here’s where diagnosis comes in.
Getting a diagnosis allows you to determine the exact presentation and severity of your baby’s TCS case, which can help you identify the most appropriate treatment options.
This process generally involves a physical examination to check your baby for facial features distinctive of TCS, such as underdeveloped jaws, flattened cheekbones, and misshapen ears.
Some healthcare providers may also order an X-ray exam and a CT (computed tomography) scan to better understand your child’s craniofacial situation.
Contact us for more information on how Dr. Youssef Tahiri and The Los Angeles Ear and Craniofacial Center team ensure your child receives a precise 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 for our experienced and compassionate staff to evaluate.
Treatment Options for Treacher Collins Syndrome
There’s no denying that a TCS diagnosis can be crushing, especially considering that this congenital disorder can significantly affect your child’s life prospects in severe cases.
Fortunately, all is not lost. After all, various options exist to help you correct and manage the symptoms of Treacher Collins syndrome and improve your little one’s chances of leading a satisfying life.
To address breathing challenges, for instance, you have options including:
- Positioning techniques: Proning (face-down on their belly) and implementing other positioning techniques may help raise your baby’s oxygen levels.
- Tracheostomy: This surgical intervention method lets you bypass airway obstruction and help your child get oxygen to their lungs efficiently through an opening in their neck.
- Glossopexy: This treatment option connects your child’s tongue to their lower lip to prevent it from falling back and blocking their airway.
- Mandibular distraction osteogenesis: This procedure lengthens the mandible using a distractor device, which can help improve your child’s breathing.
For feeding, speech, and language development problems, available options include the following:
- Gastrostomy: This medical intervention allows your child to receive nourishment directly to their stomach via a surgically installed tube.
- Speech therapy: Consulting a speech-language pathologist may help evaluate and treat potential communication and swallowing disorders (dysphagia).
For issues related to sensory functions like vision, you can consider corrective glasses, lenses, and eye surgery to help your child overcome the visual impairment associated with TCS.
At the same time, you have bone-anchored hearing aids (BAHAs), which transmit sound vibrations to your baby’s inner ear to help address hearing difficulties.
If you want to correct the craniofacial abnormalities characteristic of Treacher Collins syndrome, such as micrognathia, microtia, and cleft palate, you can pursue plastic and reconstructive surgery.
And who better to consult with your child’s unique needs than Dr. Youssef Tahiri, a world-renowned pediatric craniofacial surgeon who routinely performs complex craniomaxillofacial procedures, such as:
- Microtia repair
- Cleft lip and palate repair
- Cranioplasty
- Craniosynostosis surgery
- Jaw surgery
With The Los Angeles Ear and Craniofacial Center team, you can be confident that your child with TCS will receive the care and attention they need to live a typical life.
Schedule a free consultation to learn more about our innovative treatment options and comprehensive management plans by calling (310) 255-4476 or emailing team@tahiriplasticsurgery.com.
Clinical Research and Studies for Treacher Collins Syndrome
Our understanding of Treacher Collins syndrome has evolved since Edward Treacher Collins first described it in medical literature in 1900. But research on this genetic disorder hasn’t stopped.
Scientists and healthcare professionals are continually working to unravel TCS and offer hope for parents and affected individuals to treat this life-altering condition.
So, what’s new? Here are some of the latest and most promising findings in TCS research and studies according to the National Organization for Rare Disorders (rarediseases.org):
- The p53 protein: This protein helps the body eliminate sick and damaged cells. However, in children with TCS, the p53 protein is abnormally activated, causing the unwanted death of cells essential for craniofacial bone and cartilage development.
- Researchers are investigating ways to inhibit this protein or block the processes that activate it to prevent the development of TCS and, by extension, craniofacial deformities.
- Dietary supplements: Several studies conducted on animals suggest that dietary antioxidant supplements may protect cells during early development, potentially facilitating normal craniofacial growth.
- Although these tests show promising results, scientists still need to conduct further studies to determine dietary supplements’ long-term safety and efficacy as a preventive measure against TCS.
- Stem cell therapy: Researchers are currently analyzing the use of stem cells from fat tissue to stimulate tissue growth and repair in individuals with craniofacial abnormalities.
- Like with dietary supplements, initial studies indicate favorable results. However, more analysis is needed on this approach’s viability, as stem cell therapy is experimental and controversial.
“How Can I Reduce the Risk My Child Will Have Treacher Collins Syndrome?”
If you or your partner have a family history of TCS, you may be concerned that your children will inherit the craniofacial condition. It’s a valid concern, especially considering that TCS is genetic.
Here’s where genetic testing and counseling come in. A genetic test can help identify genetic abnormalities in your personal and family health history.
Meanwhile, genetic counseling can provide valuable information about the risk of passing mutated genes that cause TCS and other genetic conditions to your children.
You can also seek advice from your obstetrician or prenatal care provider on proper care for your unborn child, as external factors like UV radiation and viruses have been linked to TCS.
Can Treacher Collins Syndrome Be Cured?
While research on experimental treatment options like dietary antioxidant supplements and stem cells bring hope for the future, there’s currently no cure for Treacher Collins syndrome.
Fortunately, various early intervention and medical care options exist to help your child lead a long, ordinary life, from ones that address breathing and feeding challenges to those that correct craniofacial differences.
The question is, “Do you have the right craniofacial team around your baby?” If not, don’t hesitate to contact us—The Los Angeles Ear and Craniofacial Center, led by Dr. Tahiri.
Our experienced, highly trained, compassionate team will happily craft a comprehensive treatment and management plan tailored to your precious little one’s unique needs.
Disorders With Similar Symptoms
Treacher Collins syndrome is identifiable by distinct craniofacial presentations, such as a small lower jaw, absent ears, and downward-slanting eyes.
But saying your child has TCS because they display these features is like saying apples are apples because they’re red. Many things are red. Similarly, various congenital disorders share symptoms with TCS.
Here are some of those disorders:
- Pierre Robin sequence: Children with TCS are often described as having Pierre Robin sequence (PRS), as symptoms include micrognathia, glossoptosis, and cleft palate.
- PRS was previously considered a syndrome, a condition wherein symptoms occur together. However, because PRS symptoms occur sequentially, their classification was later changed to a sequence.
- Nager and Rodriguez syndrome: These genetic disorders present similarly to TCS, including underdeveloped cheekbones (malar hypoplasia), small lower jaws, and microtia.
- But unlike TCS, these syndromes also affect the arms, hands, and feet, resulting in anomalies like absent thumbs, absent forearm bones, and webbed toes (syndactyly).
- Miller syndrome: Babies with Miller syndrome have craniofacial differences similar to TCS, such as micrognathia, cleft palate, and colobomas.
- However, children with Miller syndrome can have clinical presentations that TCS lacks, including toe webbings, improper positioning of toes, and fused forearm bones (radioulnar synostosis).
- Acrofacial dysostosis: This disorder shares several characteristic facial features of TCS, such as underdeveloped jaws, downward-slanting eyes, and, sometimes, choanal atresia.
- Unfortunately, this condition can also cause pelvic and limb differences that result in short and stocky fingers, curved femurs, and absent bone formations (ossification).
- Hemifacial microsomia and Goldenhar syndrome: Like TCS, children with hemifacial microsomia and Goldenhar syndrome often have deformities in the jaw, mouth, and ears.
- However, the symptoms of these two congenital conditions generally appear unilaterally (on one side of the body). In contrast, TCS clinical features tend to occur symmetrically.
How Can Parents Help?
As a parent, learning that your child has Treacher Collins syndrome and that their condition can potentially impact their health and future can be a bitter pill to swallow.
The good news is that most children with TCS can live complete, healthy lives with proper care and support. It’s your job as a parent to ensure that your baby receives them.
“How Do I Take Care of Them?”
Caring for a child with TCS is a journey that looks different for every family. After all, your child’s symptoms and, by extension, needs will vary from those with the same condition.
But here’s a general idea of how you can adequately take care of your precious little one:
- Consult a doctor: In addition to the classic TCS facial features, your child may have symptoms that require immediate medical attention, such as respiratory problems.
- Regularly communicating with your baby’s primary healthcare provider allows you to identify potential concerns and receive guidance on possible treatments.
- Provide emotional support: The unfortunate truth is that your child may face psychosocial challenges from bullying due to their craniofacial differences and the social stigma around TCS.
- So, it’s critical for your baby’s emotional well-being for you to build a supportive circle consisting of you, family members, support groups, and therapists.
- Ask for help: Parenting a child with TCS can be rewarding and challenging. However, no one says you have to navigate this journey alone. Like your child, you need support, too.
- Fortunately, various resources are available to help you manage your baby’s symptoms, from other parents with kids with TCS to research centers like the National Institutes of Health (nih.gov).
“What Questions Should I Ask My Doctor?”
When your child has Treacher Collins syndrome, it’s natural to feel dazed and want to ask your healthcare provider every question that comes to mind.
While all your concerns are valid, some questions can provide invaluable insights to help you better understand your baby’s condition and the steps you can take to support their care.
Here are some of those critical questions:
- “How severe are my child’s symptoms and will they impact their life prospects?”
- “Apart from craniofacial anomalies, are there complications I must worry about?”
- “What are my options to treat and manage my baby’s symptoms and do they involve surgery?”
By asking these crucial questions, you can work closely with your child’s primary care physician to better understand your baby’s needs and ensure they receive the best possible care.
A Note From Dr. Tahiri
While we can’t imagine the feeling of seeing your child with the distinctive facial features of Treacher Collins syndrome and what they imply, know that there’s still hope for a bright future.
After all, children with TCS can live as long as those without it if they receive the necessary medical care. Fortunately, The Los Angeles Ear and Craniofacial Center team will ensure yours does.
Led by Dr. Youssef Tahiri, our compassionate team will work with you to craft a comprehensive treatment plan tailored to your little one’s unique challenges and needs.
With cutting-edge craniofacial procedures and state-of-the-art, infection-free facilities, you can be confident that your child will get the best chance of growing old with you.
You can schedule a free consultation by calling (310) 255-4476 or emailing team@tahiriplasticsurgery.com. You can also visit our clinic at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.
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