Navigating life with a child who has Treacher Collins Syndrome (TCS) comes with unique challenges—ones only parents on this path truly understand.
Severe cases of TCS can bring real worries—breathing, hearing, and feeding challenges that can be overwhelming for any parent.
If your child has TCS, you’re familiar with the weight of these pressing concerns.
You may look at your little one’s face—their jaw, their ears, how they fight for every breath and wonder: What’s next for them? Will they hear clearly, breathe easily, and find their place in a world that sometimes judges quickly those who look different?
These questions can feel endless, especially as each new piece of information about TCS raises new concerns.
You might be asking yourself whether surgery is necessary to help your child thrive. As a parent, the challenge of finding the right treatment and support can be daunting.
And while you’ve already consulted a few doctors, their answers left you feeling uncertain. What you’re looking for isn’t just any care—you want expertise, compassion, and a plan that actually works.
This is where experts like Dr. Youssef Tahiri can make a real difference. A board-certified plastic and reconstruction surgeon, Dr. Tahiri is dedicated to helping children with congenital conditions, such as TCS, thrive.
His advanced, holistic approach combines surgical and nonsurgical solutions tailored to your child’s unique needs.
Dr. Tahiri’s expertise goes beyond technical skills. As a leading figure in craniofacial and pediatric plastic surgery, he puts together cutting-edge innovation with genuine compassion.
He’s also at the forefront of techniques like the porous polyethylene (PPE) ear implant for microtia reconstruction—a method designed to improve both function and appearance.
From the first consultation to post-surgical follow-ups, Dr. Tahiri’s commitment to your child’s well-being shines through.
If you’re searching for a specialist who combines experience with heart, Dr. Tahiri’s expertise and compassionate care can offer your child a brighter path forward.
Treatment Options Overview
Receiving news that your child has a TCS can throw you into a whirlwind of fear, stress, and uncertainty. Adding to the challenging symptoms of the condition is the fact that researchers have yet to discover a cure for genetic conditions like TCS.
TCS treatment focuses on managing symptoms and improving quality of life, not curing the underlying genetic mutation.
But there is hope. While life doesn’t hand out instruction manuals for dealing with TCS, support and solutions to manage the condition are within reach.
Fortunately, there are both surgical and nonsurgical options available to help children with TCS lead full, happy, and confident lives. Reputable surgeons like Dr. Tahiri specialize in these treatments, offering personalized care for your child.
To help manage and improve the symptoms of Treacher Collins Syndrome, here are some effective surgical and nonsurgical options to consider:
Surgical Treatments for Treacher Collins Syndrome
If you hope to correct craniofacial issues caused by TCS, consider these five surgical solutions:
- Jaw and craniofacial plastic and reconstructive surgery
- If your child has TCS, they may experience teeth crowding due to small jaws. Orthodontic treatment can help align your little one’s teeth into their correct positions.
- Please note that while orthodontic treatment is often necessary for children with TCS, its effectiveness depends on the severity of craniofacial abnormalities.
- The treatment is typically part of a broader multidisciplinary approach, often involving surgery to address the structural issues before orthodontic work.
- Meanwhile, microtia surgery and cheek augmentation procedures can reconstruct craniofacial malformations, such as misshapen ears and flattened cheeks.
- However, not all children with TCS will require or benefit from these procedures. The timing and appropriateness of these surgeries depend on the patient’s unique needs. They should be specified in consultation with a craniofacial specialist.
- Your little one may undergo cleft palate repair for facial differences such as cleft palate.
- Tracheostomy: Blocked airways caused by TCS can be a serious problem that parents or doctors don’t always notice.
- If the obstruction is severe, a tracheostomy might help. This procedure involves surgically placing a tube into the windpipe (trachea) to keep the airway clear and ensure proper breathing.
- That said, many children with TCS benefit from less invasive airway management techniques before tracheostomy is considered.
- Tongue-lip adhesion: Glossopexy, or tongue-lip adhesion, is a surgical technique that keeps your child’s tongue from slipping back and blocking their airway.
- By connecting the tongue to the lower lip, it helps clear the path for breathing.
- Gastrostomy: If your child experiences feeding difficulties due to craniofacial deformities, this technique can help them take in the necessary nourishment through a tube to their stomach.
- Mandibular distraction osteogenesis: This procedure addresses respiratory issues by lengthening your little one’s lower jaw. It involves surgically cutting the mandible and placing a distractor device that gradually stretches the bone.
- Nasopharyngeal intubation: During this procedure, a tube is placed through the nose to bypass any airway obstructions and ensure a clear passage for airflow.
Nonsurgical Treatments for Treacher Collins Syndrome
Here are some nonsurgical solutions to manage TCS:
- Prone positioning: This technique involves placing patients with acute respiratory distress syndrome (ARDS) face down to improve their breathing and lung function.
- Hearing Rehabilitation: A pediatric otolaryngologist—a nose, ear, and throat specialist—may conduct formal audiological testing to evaluate your child’s hearing abilities.
- After the evaluation, this doctor can fit your little one for hearing aids to help improve their hearing abilities.
- Speech therapy: Children with TCS can experience speech and language development delays. Speech pathologists may help a child with TCS improve their communication skills.
The treatment options given above can help address the challenges of TCS. But the critical question is: which ones are best for your child?
After all, knowing the right treatment option helps ensure your little one gets the personalized care they need.
That’s why working with the right craniofacial team is vital. At the Los Angeles Ear and Craniofacial Center, Dr. Youssef Tahiri and his expert team specialize in crafting treatment plans customized to each patient’s unique situation, objectives, and preferences.
Ready to explore the best options for your little one? Schedule a free consultation today—call us at (310) 255-4476 or email team@tahiriplasticsurgery.com.
“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 [echocardiogram] 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 desperately waiting for.”
Owen’s Parents
“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 thrilled with her big ear and looking forward to [having] the other side [done]. The doctor has a gift. He is an artist and so great with kids. 5 stars all around.”
Kate Faroni
Diagnosing Treacher Collins Syndrome
TCS comes with its own set of distinct symptoms. Suppose you want a comprehensive treatment plan that fully and directly addresses your child’s specific needs. In that case, getting the diagnosis right is even more critical.
For example, while your newborn’s appearance may cause doctors to suspect TCS as the most likely diagnosis, it is not definitive.
Your doctor may order an X-ray imaging of your little one’s facial bones and genetic tests to confirm their diagnosis.
We offer precise and comprehensive care at the Los Angeles Ear and Craniofacial Center. We blend cutting-edge diagnostic procedures with the highest-level care to accurately diagnose craniofacial disorders, including TCS.
During the diagnostic procedure, we:
- Perform an in-depth clinical evaluation, including X-ray imaging and genetic testing.
- Conduct a meticulous examination of your child’s family health history.
- Identify distinctive physical features associated with TCS.
If you’re ready for a thorough diagnosis of your little one’s condition, book a free consultation with Dr. Tahiri today.
Call (310) 255-4476 or email team@tahiriplasticsurgery.com. You can complete our contact form to send images of your child’s symptoms for evaluation. Our compassionate and professional staff will contact you as soon as possible.
What Questions Should I Ask My Doctor?
A diagnosis of Treacher Collins syndrome can raise a variety of questions, and you should ask as many as you need—we’re here to answer them all.
The truth is that TCS brings unique challenges that few people understand. That’s why getting the right information early on is crucial to understanding how to care for your child.
Here are some questions you may ask us, the specialist at your local children’s hospital, or any healthcare provider regarding TCS:
- How will TCS affect my child’s day-to-day life?
- Are there any serious health issues linked to TCS?
- Could TCS impact my child’s cognitive or intellectual development?
- Will my child experience vision, hearing, or speech challenges?
- Will surgery be necessary for my child?
- How urgent is the need for surgery in my child’s case?
What Is Treacher Collins Syndrome?
TCS (Treacher Collins syndrome) primarily affects the development of the jaw bone and the size, shape, and position of the eyes, ears, and cheekbones.
If your child has TCS, you likely see:
- Small upper (maxilla) and lower jaws (mandible)
- Underdeveloped cheekbones (malar)
- Downward-slanting eyes
- Malformed or very small ears (microtia)
TCS is entry #154500 in the OMIM (Online Mendelian Inheritance in Man), a primary catalog of human genes and genetic disorders.
You may also know TCS as:
- Franceschetti–Klein syndrome: Adolphe Franceschetti and David Klein elaborated on the facial features of the condition and coined the term mandibulofacial dysostosis.
- Berry’s syndrome: TCS was named this due to its early discovery by the ophthalmologist Dr. George Andreas Berry in 1889.
- Mandibulofacial dysostosis (MFD1): This name derives from the fact that TCS affects the facial bones, lower jaw, and chin (mandibulofacial).
- Zygoauromandibular dysplasia: Dysplasia refers to an abnormality in form or development.
What Causes Treacher Collins Syndrome?
As a parent, you might blame yourself for your child’s TCS. If you are the mother, you might think they developed the condition due to something you did or didn’t do during pregnancy.
But you don’t have to carry that guilt around with you. The fact is that TCS is caused by a change in a gene affecting your baby’s facial development before birth.
TCOF1 (treacle ribosome biogenesis factor 1) mutations cause TCS. Here’s how: The TCOF1 gene contains instructions for manufacturing treacle protein, a biomolecule essential for forming facial bones and tissues during early embryonic development.
Now, these instructions may be altered or disrupted due to deletion or insertion, which are types of genetic mutations of DNA (deoxyribonucleic acid) building blocks.
As a result, the developing fetus’ body produces less rRNA or ribosomal RNA (ribonucleic acid), causing cells that help form facial bones and tissues during early development to undergo apoptosis (self-destruction).
This process of programmed cell death happens because RNA is crucial to protein synthesis.
Research suggests that this abnormal cell death caused by the TCOF1 mutation might explain why TCS syndrome causes developmental issues in the face.
For example, TCOF1 mutations in mice models disrupt the growth and migration of cranial neural crest cells into the branchial arches, which are vital to head development.
Like humans with TCS, these mouse models displayed underdeveloped ears, facial tissues, and craniofacial bones.
That said, scientists remain puzzled as to why the reduced rRNA production primarily affects the face while sparing other body parts.
The bottom line is that TCS’ etiology (the origin or cause of a disorder) has yet to be fully explored.
Some say TCS results from haploinsufficiency, a phenomenon in which a single standard gene copy cannot sustain a gene’s normal cellular function.
Others believe that external factors, such as UV (ultraviolet) exposure and contracted viruses, may influence the development of these conditions.
Genetics and Inheritance of Treacher Collins Syndrome
Most medical experts agree that TCS primarily stems from genetic mutations during a child’s fetal development.
Researchers have identified the TCOF1 gene mutation as a key factor disrupting the development of facial bones, cartilage, and tissues.
Other genetic materials that may be linked to Treacher Collins syndrome include the following:
- POLR1B (polymerase I subunit B)
- POLR1C (polymerase I subunit C)
- POLR1D (polymerase I subunit D)
These genes are crucial to rRNA formation and transcription or protein production.
While TCS is a congenital condition (in-born), it is not always inherited. In fact, approximately 60% of TCS cases occur randomly (de novo mutation) and have no medical history.
TCS can be inherited in two ways: autosomal dominant and, less commonly, autosomal recessive. Here’s a closer look at how these inheritance patterns work through the human chromosome:
- Autosomal dominant inheritance: If the parent has TCS, their child has a 50% chance of inheriting the mutated TCOF1 gene or POLR1D (and possibly TCS).
- Autosomal recessive inheritance: Suppose a patient’s parents with TCS carry one mutated gene linked to TCS (POLR1C or POLR1D) but don’t exhibit symptoms (recessive). In that case, each of the child’s siblings has:
-
- 25% chance of developing TCS
- 50% chance of having the gene without symptoms
- 25% chance of being unaffected
The POLR1D (RNA polymerase I and III subunit D) and POLR1C (RNA polymerase I and III subunit C) genes are vital to the formation of facial bones and tissues.
Symptoms of Treacher Collins Syndrome
The cause of TCS is generally the same for affected individuals, but it can manifest in various ways, and the severity of each symptom is unique to each person.
That said, here’s a list of some of the distinctive physical features you may notice if your child has Treacher Collins syndrome:
- A small jaw (micrognathia)
- A cleft palate
- An unusually large mouth (macrostomia)
- Malar hypoplasia (underdeveloped cheekbones)
- A large, pointed nose
- Small, misshapen, or absent ears
- Hair growing from the scalp onto the cheeks
- Abnormalities in the shape of the ear canal
- Conductive hearing loss, often due to malformations in the inner ear structures
- Downward slanting eyes accompanied by colobomas (areas of missing tissue in the eye) of the lower eyelid
- Missing lower eyelashes
- Absence of the floor of the eye sockets
While people with TCS usually retain their mental capabilities, they may experience brain and behavioral challenges, like an underdeveloped head (microcephaly) and psychomotor delay.
The National Organization for Rare Disorders reported that as of 2023, 5% of individuals with TCS exhibit developmental delays or neurological problems.
For example, a TCS patient may face speech and language impediments due to hearing loss, cleft palate, or jaw and airway issues.
It is worth noting that normal language development doesn’t usually affect intelligence.
Other less common symptoms that may be linked to TCS include:
- Gastrointestinal malformations, such as:
- Chronic intestinal pseudo-obstruction (CIP): CIP is a rare gastrointestinal disorder that affects peristalsis (the involuntary, wave-like muscle movement that lines the gastrointestinal tract).
- Esophageal regurgitation: This disorder is usually associated with an abnormally relaxed LES (lower esophageal sphincter).
- Abnormal relaxation of the LES leads to gastric content flowing back into the esophagus.
- Congenital heart defects, such as:
- Persistent truncus arteriosus: This condition develops when the developing truncus fails to split into the aorta and pulmonary artery, resulting in a single, oversized blood vessel exiting the heart.
- Malformed atrial and ventricular septa: This disorder may occur when holes form between the heart’s upper and lower chambers.
The symptoms and severity of Treacher Collins syndrome can vary from one person to another, even among members of the same family.
Some TCS symptoms may be so mild that they remain undiagnosed. Others may have visible abnormalities and be at risk of fatal respiratory complications.
As a parent of a child with TCS, it’s understandable to feel uncertain about what’s ahead.
You may wonder, “Does my child really have TCS?” “What exactly is TCS?” or “How will these physical abnormalities affect their life?”
While there’s still much to learn about rare conditions like TCS, you don’t have to go through it alone. Dr. Tahiri is here to help you understand the diagnosis and offer the care and support your child needs.
Complications of Treacher Collins Syndrome
TCS symptoms usually occur symmetrically (almost identical on both sides of the face) and can lead to complications such as the following:
- Hearing problems: About 50% of children with TCS may face hearing loss due to abnormalities with their ear canals or the tiny bones in their middle ear that are essential for sound transmission.
- Cleft palate and cleft lip: TCS patients may display a split or opening in the upper lip (cleft lip) and the roof of their mouth (cleft palate), making feeding and swallowing difficult.
- Loss of vision: Approximately 37% of children with TCS may experience vision issues.
- Some cases also include conditions such as:
-
- Congenital cataracts
- Strabismus (misaligned eyes)
- Anophthalmia (missing one or both eyes)
- Microphthalmia (underdeveloped or small eyes)
- 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).
At Los Angeles Ear and Craniofacial Center, we understand how overwhelming and nerve-wracking it can be when your child is diagnosed with TCS, especially when faced with these potential complications.
But remember, these are just possibilities—no two cases are the same.
Regardless of your child’s symptoms, Dr. Tahiri and his highly skilled team are here to guide you.
With personalized and collaborative intervention plans and advanced, proven procedures like 3D porous polyethylene implants for ear reconstruction, your child can live a full, vibrant life.
Stay hopeful! If you have concerns about your child’s condition, don’t hesitate to reach out—call us at (310) 255-4476 or email team@tahiriplasticsurgery.com.
“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.
[Together,] they 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
Outlook and Quality of Life
The impact of TCS can vary significantly from patient to patient. If your child struggles with breathing or feeding issues, surgery might be necessary.
But on the whole, children with TCS need ongoing care and support to help them lead the fullest life possible.
It might sometimes feel overwhelming, but here’s the truth: with proper management, people with TCS can live just as long and healthy a life as any child without it.
Early intervention, the right medical attention, and careful management of their growth and development can make all the difference in your child’s future.
It is entirely reasonable to experience some uncertainty or to seek guidance regarding the next steps. Please be assured that we are here to support you.
If you have any questions or need assistance connecting with the appropriate resources, we are more than willing to help.
Genetic Counseling and Family Planning
Genetic testing can help ease your mind if you’re worried that your baby may carry abnormal genes that cause genetic disorders, such as TCS.
You can do genetic testing on an unborn child, giving you the chance to identify—or rule out—any genetic issues that could impact your little one’s future.
If you want to get a clearer picture of TCS, genetic counseling can be a big help. This program can guide you through the challenges of having a family member with a genetic condition, give you insight into the risk of having another child with TCS, and help you make informed treatment decisions for your little one.
While we don’t have in-house geneticists and genetic counselors, we can recommend and refer you to highly credible and experienced ones.
Why Choose Dr. Tahiri for Treacher Collins Syndrome Surgery?
At the Los Angeles Ear and Craniofacial Center, we understand that Treacher Collins syndrome can significantly affect your child and the entire family.
TCS patients may experience emotional distress and social challenges, like stigma, bullying, and prejudice because they appear and behave differently.
Even you as a parent may also bear the psychosocial burden due to TCS. You may have had to take in unsolicited advice and endure judgemental stares and underhanded comments about your child’s physical features.
Dr. Tahiri finds it very hard to witness families and children who can’t get the care they deserve.
He founded The Los Angeles Ear and Craniofacial Center to ensure parents and children with TCS get the expert, compassionate, and comprehensive treatment they need.
As such, our practice aims to foster a supportive community comprising family, healthcare providers, educators, and peer support groups to cultivate independence, self-esteem, and resilience.
Our ultimate goal is to help affected individuals and families build confidence and lead full, normal lives.
That’s why Dr. Tahiri and his team ensure they partner with you to craft a personalized treatment program that considers your child’s unique situation.
We offer various solutions to functional, educational, cosmetic, and psychosocial problems caused by TCS.
Are you worried the entire treatment process might wear you and your child down? Our care team will assist you through the medical procedures, help with travel and accommodation arrangements, and offer ongoing support throughout your child’s journey.
Book a free consultation to learn more about how Dr. Tahiri can help your child with Treacher Collins syndrome.
Call us at (310) 255-4476 or email team@tahiriplasticsurgery.com. You can also visit our state-of-the-art facility at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.
Remember, there’s hope—and we’re here for you to turn that hope into reality!
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