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Treacher Collins Syndrome

Definition

Treacher Collins is a rare, inherited, congenital craniofacial condition affecting the bones, jaws, skin, and muscles of the face. A syndrome is a disease or disorder that has more than one identifying feature or symptom.

Children with Treacher Collins syndrome share many facial features, although the severity of the condition varies widely.

Because this syndrome involves a number of different areas of the face, the treatment requires the skills and experience of a craniofacial team with a coordinated treatment plan.

Was your child born with distinctive features of the head and face? Are you concerned your child may have Treacher Collins syndrome (TCS)? 

Receiving a diagnosis of TCS for your child can be overwhelming, raising many questions such as:

  • “Will TCS cause breathing problems and hearing loss?”
  • “Will TCS affect my child’s brain and life expectancy?”
  • “Are there available treatment options for TCS? Can TCS be cured?”

It’s perfectly natural to feel anxious and uncertain about your child’s future. After all, TCS is a genetic condition that can affect facial bone and tissue development and, in severe cases, can lead to feeding and breathing problems. 

We understand the weight of such concerns—You want the best possible outcome for your child, and we want that, too. 

Whether you’re a parent or an individual with TCS, we want to assure you that there’s hope.

Dr. Youseff Tahiri, a highly respected pediatric and adult craniofacial, plastic, reconstructive, and aesthetic surgeon, is dedicated to providing compassionate and advanced care.

Let us answer your questions and give you insight into the possible treatment solutions for your child. 

Contact us to learn more about how Dr. Tahiri’s state-of-the-art Los Angeles Ear and Craniofacial Center and innovative procedures can help you and your child overcome the challenges of living with TCS.

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

Other Names for This Condition

Treacher Collins syndrome got its name from Edward Treacher Collins, also known as the “greatest English-speaking ophthalmologist” since Sir William Bowman.

Dr. E. Treacher Collins first described the rare genetic disorder in the medical literature in 1900.

However, other notable individuals, including Adolphe Franceschetti, David Klein, and Berry G.A., also helped describe the disorder’s essential traits, shaping our understanding of the disorder.

For this reason, you can also refer to Treacher Collins syndrome by several other names, such as the following:

  • Mandibulofacial dysostosis (MFD1)
  • Franceschetti-Zwalen-Klein syndrome
  • Treacher Collins-Franceschetti syndrome
  • Zygoauromandibular dysplasia
  • Berry-Treacher Collins syndrome

Regardless of which name you call it, TCS describes the same underlying condition—developmental abnormalities and deformities in the craniofacial region, especially in the cheeks, jaw, and chin.

How Common Is Treacher Collins Syndrome?

While the 2017 movie Wonder helped raise awareness about the challenges family members and individuals with TCS face, the genetic disorder is a relatively rare condition that not many people know about.

How rare? Numerous studies have found that its prevalence ranges between one in 25,000 and one in 50,000 live births. 

Are you worried that your child may have TCS? Contact Dr. Tahiri’s clinic for a diagnosis of Treacher Collins syndrome by calling (310) 255-4476 or emailing team@tahiriplasticsurgery.com.

Better yet, you can fill out our contact form to send images of your child’s symptoms for Dr. Tahiri to evaluate.

What Causes Treacher Collins Syndrome?

All parents wish their children to be healthy. So, having a child with TCS can make you wonder why it happened. Was it something you did during the pregnancy?

While it’s no consolation, it wasn’t anything you did wrong. It’s not because you didn’t eat more fruits and vegetables. It’s not because you had a glass of wine one evening.

In most cases, Treacher Collins syndrome occurs from a random glitch—a mutation— in your child’s genetic blueprint. Genes are like instructions and missing or unclear instructions can cause developmental problems.

In the case of TCS, the unwanted change occurs in the genes located on chromosome 5—genes critical in cell growth and division.

One affected gene is the TCOF1 gene, which produces the treacle protein. This protein is essential for developing your child’s facial cartilage, bone, and connective tissue.

Without this protein, ribosomal ribonucleic acid (rRNA) transcription and formation may not occur, affecting your baby’s ability to create other proteins and, thus, resulting in deformities.

Who Gets Treacher Collins Syndrome?

TCS can be inherited. So, if you think your child got the faulty gene from you, you could be right. 

Studies show that a parent with TCS has a 40% chance of passing the affected gene on to every child they have. This is also true if you or your spouse’s family has the mutated gene.

However, the odds are high that your baby’s birth defect happened randomly. Roughly 60% of children with Treacher Collins syndrome didn’t inherit the condition from either mom or dad, meaning it’s a new mutation.

Signs that your child has this mutated genetic material include the following:

  • Microtia (deformed or missing ears)
  • A protruding face with a receding jaw and chin
  • Downward-slanting eyes accompanied by lower eyelid colobomas

A coloboma occurs when part of the eye’s tissue is missing at birth. The condition can result in poor vision, blindness, or sensitivity to light.

Pattern of Inheritance of Treacher Collins Syndrome

Suppose 60% of children with TCS got it from a random gene mutation. Wouldn’t that mean 40% of babies received the abnormal genetic code from their parents?

Yes, but there’s more nuance to it. To explain, here are two critical points you must understand:

  • Your child’s genes comprise two gene copies—one copy from you and one from your partner (the other parent).
  • TCS primarily follows an autosomal dominant inheritance pattern.

In an autosomal dominant inheritance pattern, it only takes one altered gene to cause Treacher Collins syndrome. In other words, you may pass it down if you or your spouse has a family history of TCS.

However, TCS can also follow an autosomal recessive inheritance pattern. Under this pattern, your child must receive two copies of the mutated gene—one from each parent— to develop TCS.

So, which is which? Does TCS follow a dominant or recessive gene inheritance pattern? The answer lies in the mutated gene you and your partner carry.

An autosomal dominant condition results from passing on the faulty TCOF1 or POLR1D gene. However, if an altered POLR1C gene causes the TCS manifestation, it’s an autosomal recessive condition.

Like the TCOF1 gene, the POLR1C and POLR1D genes play a role in rRNA formation and transfer, critical for your baby’s cell function and survival and, by extension, bone and tissue development.

TCS inheritance can be a complex topic, and all the information we just gave you can be overwhelming. So, if you have questions, don’t hesitate to ask.

Dr. Youseff Tahiri and our compassionate staff are ready to assist you. Call (310) 255-4476 or email team@tahiriplasticsurgery.com, and we’ll happily address your concerns.

Symptoms of Treacher Collins Syndrome

TCS can express itself in various unfortunate ways. While the cause is always the same—an altered gene—the severity of the symptoms is unique to each person.

Nonetheless, here’s a breakdown of some of the features you may see if your child has Treacher Collins syndrome:

  • Facial Features: For most kids, TCS presents itself as facial deformities, including the following:
    • Microtia (very small, deformed, or missing external ears)
    • Atresia (small or missing inner ear openings)
    • Coloboma (a notch in the lower eyelids)
    • Droopy or downward-slanting eyes
    • Undersized cheekbones
    • Micrognathia (a small mandible or lower jaw) 
    • Maxillary hypoplasia (underdeveloped upper jaw) 
  • Hearing: Approximately 50% of children with TCS may experience hearing loss due to problems with their ear canals or the tiny bones in their middle ear that help transmit sound.
  • Cleft palate and cleft lip: Individuals with TCS have a split or opening in the roof of their mouth (cleft palate) and upper lip (cleft lip), which can result in feeding problems.
  • Breathing Problems: In severe cases, TCS can cause breathing difficulties, such as sleep apnea, due to an underdeveloped windpipe or choanal atresia (congenitally narrow or blocked nasal airway).
  • Vision loss: About 37% of children with TCS experience vision impairment. In some cases, babies with TCS also have congenital cataracts, microphthalmia (underdeveloped or undersized eyes), strabismus (eye misalignment), and anophthalmia (missing one or both eyes).

We understand that these symptoms can be anxiety-inducing, especially if your child has been diagnosed with TCS. However, you must remember that these manifestations are only possibilities.

Treacher Collins syndrome can affect each person differently, and regardless of whatever symptoms your child develops, know that you’re not alone—Dr. Tahiri can help.

Through specialized, coordinated intervention plans and cutting-edge, peer-reviewed procedures, such as 3D porous polyethylene implants for ear reconstruction, your child can still lead a fulfilling life.

So, don’t lose hope! If you have concerns about your child’s development, please call (310) 255-4476 or email team@tahiriplasticsurgery.com.

Can You Detect Treacher Collins Syndrome Before Birth?

A prenatal ultrasound allows you to monitor your baby’s health and development. It can check your unborn child’s size, position, and heart rate. But an ultrasound can do more than that.

 By the beginning of your second trimester, your baby’s facial features begin to take shape, and an ultrasound can reveal signs that suggest your baby has TCS, such as a small jaw or deformed external ears.

Now, you’re probably thinking, “Why didn’t my ultrasound reveal that my baby will be born with Treacher Collins syndrome?” “Why didn’t my healthcare provider tell me?”

Learning that ultrasound could’ve detected TCS but didn’t can be frustrating. However, you must understand that ultrasounds aren’t perfect.

Although ultrasounds may detect severe forms of TCS, they aren’t explicitly designed to spot clues suggesting your baby has a genetic disorder.

“What Happens if My Ultrasound Shows My Child Could Have Treacher Collins Syndrome?”

An ultrasound suggesting that your unborn child may have Treacher Collins syndrome can be challenging to process. But you don’t have to carry this burden alone.

You deserve all the support you can get. And that’s precisely what Dr. Tahiri and our staff members can give you.

We are committed to providing the best and most comprehensive care. If you have any questions, we’ll give you the answers and help you navigate this new information at your own pace.

“Does This Syndrome Affect My Child’s Brain?”

Here’s some reassuring news: There’s no evidence that TCS impacts brain development or intellectual ability. In other words, you can expect your child to have normal intelligence.

However, hearing loss is a common symptom of TCS, and this impairment can sometimes lead to developmental delays.

The good news is that these delays can be effectively addressed with treatments like hearing aids and speech therapy.

We understand that a TCS diagnosis can raise many questions. Our goal is not to pressure you into making a decision. Instead, we aim to empower you with the knowledge to help you overcome the challenges of TCS.

 Please don’t hesitate to contact Dr. Tahiri or any of our compassionate team members. We’re here and ready to support you and your child on this journey.

Diagnosing Treacher Collins Syndrome

Getting a diagnosis for suspected TCS in your child can be scary and confusing. But you can trust us to guide you through the process and be with you every step of the way.

At the Los Angeles Ear and Craniofacial Center, we leverage cutting-edge surgical techniques, including  X-rays and CT scans (computed tomography), and prioritize exceptional care to deliver accurate diagnoses for our patients.

Genetic Counseling and Testing

Genetic testing can be an invaluable tool if you’re worried your baby may carry faulty genes that cause genetic disorders like Treacher Collins, Stickler, or Nager syndrome.

For context, Stickler and Nager syndrome are also congenital conditions that can cause craniofacial anomalies, such as a cleft palate and a very small lower jaw.

The best part is that genetic testing can be performed on unborn children, allowing you to confirm or rule out genetic diseases that may affect your child’s future.

If you want to develop a better understanding of TCS, you can also consider genetic counseling, a program that can help:

  • Provide you with guidance and support to help you overcome the difficulties of having a family member with a genetic condition
  • Explain the future risk of having another child with TCS
  • Prompt you into making the most appropriate treatment decisions for your child

While we don’t have in-house geneticists and genetic counselors, we can recommend and refer you to highly credible and experienced ones.

Can Treacher Collins Syndrome Be Cured?

It’s a hard pill to swallow, but unfortunately, there isn’t a cure for Treacher Collins syndrome. Believe us, we genuinely wish there was. Like you, we want your child to lead a full and active life.

Although they’re not meant as compensation for the challenges you and your child may face, treatment options are available to improve your child’s quality of life.

Fortunately, Dr. Youseff Tahiri can guarantee that whatever solution he recommends considers your baby’s unique case and is tailored to address the various complications that can arise.

Treacher Collins Syndrome Treatment

Treatment for Treacher Collins syndrome can involve surgical interventions to address breathing, feeding, and structural concerns from the first days of life.

These may include glossopexy, mandibular distraction osteogenesis, tracheostomy, and gastrostomy. Cleft lip and palate are typically surgically corrected at 3 and 10 months of age, respectively.

Around the age of 3.5 years, efforts to correct microtia and conductive hearing loss begin, with a preference for reconstructing the ear using a 3D porous polyethylene implant.

The zygomatic contour may be enhanced through fat grafting or, in severe cases, with bone grafts from the skull or iliac crest. 

Lower eyelid colobomas are repaired using a detailed reconstruction approach, and jaw correction is considered from ages 13 to 16, depending on the development and condition of the temporomandibular joint (TMJ).

As patients approach skeletal maturity around age 16, facial soft tissue contour can be further refined with additional fat grafting. Such cosmetic and functional improvements significantly benefit the patient’s psychological and social well-being.

Research involving 20 TCS patients showed notable enhancements in appearance, self-esteem, and functional ability following craniofacial reconstruction, with the most significant improvements observed one year after the operation.

Surgery for Treacher Collins Syndrome

While there isn’t a cure for Treacher Collins syndrome, surgical interventions can help address many of the functional and cosmetic concerns you may have.

Here are some of those treatment options:

Feeding and Cleft Palate Repair

If your baby was born with a small jaw or cleft palate and lip, feeding can be challenging. In severe cases, these craniofacial anomalies may even require tube feeding or gastrostomy tube insertion.

Our team can offer guidance on feeding techniques to help your baby get the necessary nourishment.

Dr. Tahiri can also perform surgery on cleft lips and cleft palates. However, to help with their speech development, we recommend the surgery be done before your child reaches one year old.

Easing Breathing

Underdeveloped facial bones can sometimes cause breathing problems in infants. Depending on your child’s case, fixing this issue can be as straightforward as giving you positioning advice to help with your child’s breathing.

However, in severe cases, Dr. Tahiri can recommend jaw surgery. 

Meanwhile, other surgical interventions, such as tracheostomy, open your baby’s airway, creating an opening in your child’s windpipe through the neck.

“Our son Owen was born via a scheduled repeat C-section on July 14th, 2014. While the nurses assessed Owen, they noticed he wasn’t breathing ideally, so he went to the NICU for some monitoring. 

We soon learned that Owen had a cleft palate…My world shattered…

An ECHO of his heart showed some cardiac issues. At a week old, he had a sleep study to determine if we needed jaw surgery to improve his airway…

When you’re told your child is a medical mystery, sometimes hope seems lost.

[But] Dr. Tahiri, our plastic surgeon, stands out to us and will always have a place in my family’s heart. I truly believe he saved our son’s life twice. He truly cares about his job and the patients that he treats. He has made surprise visits to our room and called me after work hours and on weekends to give us test results that we were so desperately waiting for.”

Owen’s Parents

Enlarging the Jaw

If your child’s small jaw affects breathing and chewing, surgery can be performed to enlarge it. Different surgical approaches are available, and our team will discuss the best option for your baby’s specific needs.

Some of our most effective options include orthodontic treatment and orthognathic surgery, which involves preparing your child’s teeth for surgery and aligning their upper and lower jaws.

Rebuilding Cheekbones

Treacher Collins syndrome can manifest as underdeveloped cheekbones, causing flat-looking cheekbones (zygomatic bones).

Fortunately, we can correct and enhance your child’s zygomatic contour through bone grafts, typically taken from their skull or iliac crest, and fat grafting.

The timing of these procedures will be based on your child’s unique case. Bone grafting is typically done when your child is between 8 and 10 years old, granted they don’t have subcranial rotation distraction—a condition affecting the orientation of your baby’s facial structures.

On the other hand, fat grafting to refine your child’s facial contour is usually performed around age 16, when the patient begins to reach skeletal maturity.

Managing Hearing Problems

Due to ear anomalies like microtia, conductive hearing loss is a common complication of TCS. Fortunately, your baby can have a hearing screening shortly after birth.

In addition, consulting an ear, nose, and throat specialist (otolaryngologist) or a hearing and balance expert (audiologist) for further testing can help determine the best treatment options.

Solutions typically involve bone-anchored hearing aids (BAHAs) that use vibrations in the skull bones to transmit sounds to the inner ear.

Unlike traditional hearing aids, BAHAs can lower the risk of skin irritation and provide better sound quality. Most importantly, BAHAs can help you predict results since your child can try nonsurgical BAHAs during a visit to the clinic.

Repairing Eyelids

Sometimes, differences in the lower lids, such as colobomas (notches or gaps), can leave your baby’s eyes unprotected or at risk of infection, affecting their vision.

We generally treat lower eyelid colobomas using a detailed reconstruction approach. For more information on our eyelid repair solutions, call (310) 255-4476 or email team@tahiriplasticsurgery.com.

Addressing Ear Differences

Children with Treacher Collins syndrome typically have unusual or missing external ears. As a solution, we offer microtia treatment, preferably through ear reconstruction using a 3D porous polyethylene implant.

The benefits of our procedure? A porous 3D ear structure has fantastic mechanical performance, can retain its shape for an extended period, and reduces the risk of skin ulcers.

The question is, “Why choose us to address your baby’s ear deformities?”

Simple: Dr. Youssef Tahiri is a world-renowned expert in ear reconstruction. He was hand-picked by Dr. John Reinisch—the father of the MEDPOR™ ear reconstruction technique—to continue his legacy.

“Dr. Tahiri is an amazing surgeon. We’ve known him for over five years, and he has been supportive over the years…

He patiently walked us through the entire surgical process and always answered our questions. My son had ear reconstruction surgery two months ago and also had the Oticon Ponto abutment procedure. We are beyond thankful for Dr. Tahiri, [his team], and the K & B Surgery Center.

They all together took care of our son like their own. We would recommend Dr. Tahiri again and again to all prospective patients. We have met multiple surgeons, and we knew he was the one the moment we met all those years ago.”

Christine Bayan

Improving Speech

A cleft palate or conductive hearing loss can affect your child’s speech development. Cleft palate surgery and bone-conduction hearing aids can help with this problem.

However, these solutions can only go so far. If you want to ensure your child overcomes speech difficulties and develops clear communication skills, you must also consult with a speech and language pathologist.

“What Questions Should I Ask My Doctor?”

A diagnosis of Treacher Collins syndrome can raise many questions, and we urge you to ask as many as possible—we’ll address all of them. 

We’re not going to sugarcoat it. TCS comes with various difficulties. So, it’s essential that you get the information that will empower you to care for your child as early as possible.

Here are the essential questions you should consider asking us, the pediatric surgeon at your local children’s hospital, or any healthcare professional regarding TCS:

  • Understanding the impact: How will TCS impact my child’s daily life? Are there any significant medical conditions associated with it?
  • Developmental concerns: Could Treacher Collins syndrome affect my child’s intellectual development? Will my child have a vision, hearing, or speech (language) impairment?
  • Treatment options: Will my child need surgical intervention? How soon does my child need to undergo surgery?

How We Care for Treacher Collins Syndrome

At the Los Angeles Ear and Craniofacial Center, we understand that Treacher Collins syndrome can significantly affect your baby and the entire family.

That’s why we’ll work together with you to create a comprehensive treatment program that considers your child’s unique needs.

We offer various treatment options to address functional, cosmetic, educational, and psychosocial difficulties.

Our compassionate and professional team will also guide you through any necessary medical procedures, including travel and accommodation arrangement assistance, and provide ongoing support throughout your child’s journey.

How Can Parents Help?

Dr. Tahiri’s philosophy of practice is our guiding principle: We treat patients like family members. After all, a child’s family is an integral part of the care team, even more so if the child has a genetic condition like Treacher Collins syndrome.

With that said, how does a family member and parent like you provide support for a child with TCS? 

Here are some ways you can help your child lead a fulfilling and loved life:

  • Be a source of strength: Support doesn’t always mean exploring treatment options. It can be as simple as showing your unwavering love and encouragement.

Doing so will do wonders for your child’s emotional well-being and help them build confidence and self-esteem.

  • Explore therapy options: It’s unfortunate, but your child may face emotional distress from bullying and the social stigma surrounding Treacher Collins syndrome.

For this reason, it’s essential that you build a supportive circle around your baby, including you, other family members, and peer support groups or therapists.

  • Genetic counseling: If you’re considering having more children, a genetic counselor can provide information about the risk of TCS in future pregnancies.

Just as your child needs support, you do too. Remember, you’re not alone. We’re here to help you and your child on this journey. All you have to do is reach out.

Call (310) 255-4476 or email team@tahiriplasticsurgery.com to schedule a free Skype consultation with Dr. Tahiri and our other healthcare specialists.

“How Can I Reduce the Risk That My Child Will Have Treacher Collins Syndrome?”

Genetic mutations cause Treacher Collins syndrome, and in more than half of cases, there’s no family history—nothing you could or could’ve done to prevent it.

However, if TCS runs in your family, genetic counseling can be valuable for understanding the possibilities of having another child with TCS and making informed decisions about your family planning.

That said, while a genetic counselor can evaluate the risk of passing abnormal genes on to your future children, they cannot completely prevent the inheritance of TCS.

How Long Does a Person Live With Treacher Collins Syndrome?

If you’re concerned that Treacher Collins syndrome will substantially reduce your baby’s life expectancy, don’t be.

With successful early intervention, proper medical care, and growth and development management, you can be confident that your child can live a long, healthy life.

Do you need help getting the information and support you need to help your child thrive? We’re happy to walk you through every step of the process, answer any questions, and connect you with valuable resources.

Can People With Treacher Collins Have Kids?

Although TCS can lead to various functional disabilities, it won’t impact your child’s ability to foster children.

You must understand, however, that your child can pass down their genetic mutation to their children, too. So, it’s best to consult a genetic counselor to help you make informed decisions about your future family.

What Famous People Have Treacher Collins Syndrome?

Many individuals with Treacher Collins syndrome choose to live their lives privately, and that’s perfectly understandable. But if you’re looking for an inspirational model for your child, look no further than Jono Lancaster.

Like many with TCS, Jono was born with craniofacial deformities—he had missing cheekbones, downcast eyes, and small ears.

But because of his appearance, Jono’s biological parents abandoned him—36 hours after he was born.

We understand if you feel sorry for Jono and have negative emotions toward his parents. However, you shouldn’t. After all, Jono took these challenges and flipped them on their head.

Today, Jono travels worldwide to inspire children with various disabilities, including those with Treacher Collins syndrome like him.

As of June 2024, Jono is probably the most famous person with TCS. He has almost 12,000 followers on X (formerly Twitter), more than 300,000 on Instagram, and over 100,000 on Facebook.

Jono wrote his book Not All Heroes Wear Capes to tell the world about his journey. He said, “It’s the story of how I found my way out of difficult times, and how you can do the same.”

Contact Us

Various resources, such as MedlinePlus.gov (United States National Library of Medicine), are available to help you navigate the complexities and challenges of having a child with Treacher Collins syndrome.

But if you want personalized support from skilled, experienced, and compassionate people, consider Dr. Youseff Tahiri and our Los Angeles Ear and Craniofacial Center team members.

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.