The moment you hold your newborn child is supposed to be filled with joy and wonder. But for some parents, this precious occasion can be overshadowed by worry and uncertainty if they notice something unusual in their little one—like an underdeveloped mandible (lower jaw).
Craniofacial abnormalities, such as a small jaw, can be a sign that your baby has a congenital condition, like Treacher Collins syndrome (TCS), Pierre Robin sequence (PRS), or both.
In severe cases, these congenital anomalies can cause a range of challenges, from breathing difficulties to feeding problems and possibly even hearing loss.
For this reason, it’s critical to determine your little one’s unique situation, especially if you want to give them the best possible care and a long, fulfilling life.
Early diagnosis and intervention can make all the difference in preventing serious complications and improving long-term outcomes.
Understanding your child’s unique condition is the first step in determining the best treatment plan for your child. That’s where the Los Angeles Ear and Craniofacial Center can help.
Led by Dr. Youssef Tahiri, an expert in craniofacial surgery, our team can offer the following:
- Cutting-edge diagnostic methods and surgical treatment solutions at our infection-free facilities
- Compassionate care and expert guidance from a renowned pediatric and adult reconstructive surgeon specializing in craniofacial procedures
- A comprehensive treatment program tailored to your child’s unique needs provided by a skilled and hand-picked team
Remember, you’re not alone in navigating your child’s situation. While feeling anxious is perfectly normal, our team is here to help determine the best course of action for your little one.
If you have any questions about TCS, PRS, or other craniofacial disorders, don’t hesitate to contact us.
You can schedule a free consultation by calling (310) 255-4476 or emailing team@tahiriplasticsurgery.com.
You may also visit the Los Angeles Ear and Craniofacial Center at 9033 Wilshire Blvd, Suite 200, Beverly Hills, California 90211.
What Is the Difference Between Treacher Collins and Pierre Robin Syndrome?
Treacher Collins syndrome (TCS) and Pierre Robin sequence (PRS) can cause craniofacial anomalies. While their presentations can overlap, they affect parts of the head and neck in slightly distinct ways.
Here’s a breakdown to help you understand the key differences:
- Treacher Collins Syndrome: This craniofacial condition primarily affects the development of the bones around the jaw, cheekbones, eyes, and ears.
That’s why you may notice your child has small upper (maxilla) and lower jaws (mandible), underdeveloped cheekbones (malar), downward-slanting eyes, and malformed ears when they have TCS.
- Pierre Robin Sequence: Here, the main concern is the jawbone itself. When your child has PRS, they may have micrognathia or a small lower jaw and chin.
Unfortunately, this malformation can cause the tongue to fall to the back of the throat (glossoptosis), causing upper airway obstruction and, by extension, breathing difficulties.
PRS was previously considered a syndrome—a condition wherein symptoms occur together. However, it was later called a sequence—malformations caused by a sequential chain of events.
Do understand, however, that while PRS and TCS can cause lower jaw underdevelopment, studies have shown that the former typically results in a smaller mandible and a more severe vertical growth pattern.
Treacher Collins Syndrome
Hearing that your child may have a congenital disorder can feel overwhelming and even heartbreaking.
It’s perfectly natural to feel uncertain or powerless in such moments. However, it’s critical to remember that you’re not without options.
Understanding Treacher Collins syndrome is an excellent first step to providing your baby with the best care and support.
So, what is TCS? In a nutshell, it’s a rare craniofacial condition that affects the development of your child’s facial bones, skin, and muscles.
Children with TCS often share similar facial traits and experience breathing and feeding difficulties. However, the condition’s severity can vary significantly from case to case.
In the following sections, we’ll discuss the intricacies of TCS and how it differs from a similar congenital condition, the Pierre Robin sequence.
Synonyms
Edward Treacher Collins, whom many consider the “greatest English-speaking ophthalmologist since Sir William Bowman,” first described the condition in medical literature in 1900.
So, it’s only fitting that TCS is named after him. However, several other individuals have significantly contributed to our understanding of the disorder, including:
- Adolphe Franceschetti
- David Klein
- George Andreas Berry
That’s why it’s unsurprising that Treacher Collins syndrome also goes by several other names, such as the following:
- Treacher Collins-Franceschetti syndrome
- Franceschetti-Zwahlen-Klein syndrome
- Berry-Treacher Collins syndrome
- Mandibulofacial dysostosis (MFD1)
- Zygoauromandibular dysplasia
No matter which name is used, they all describe the same condition—neonatal deformities in the craniofacial region, particularly affecting the jaw, chin, and cheeks.
Signs and Symptoms
To say that the symptoms of TCS can vary significantly would be an understatement.
In mild cases, the condition can go undiagnosed, making TCS more of an inconvenience than anything else for affected individuals.
However, children with more severe cases of TCS often have distinctive facial features, including the following:
- Microtia (absent, small, or deformed external ear)
- Atresia (missing or small inner ear opening)
- Coloboma (lower eyelid notch)
- Downward-slanting eyes
- Underdeveloped (hypoplastic) or missing cheekbones
- Micrognathia (mandibular hypoplasia)
- Small upper jaw (maxillary hypoplasia)
It’s worth mentioning that these symptoms often occur symmetrically or appear on both sides of the face and cause complications such as the following:
- Hearing loss: Around 50% of children with TCS have hearing difficulties stemming from underdeveloped or malformed ear canals or middle ear bones that facilitate sound transmission.
- Vision problems: TCS can affect the soft tissues around the eyes, so over a third of affected individuals have vision impairment.
Some children with TCS may also have congenital cataracts, microphthalmia (underdeveloped eyes), strabismus (misaligned eyes), and anophthalmia (missing one or both eyes).
- Respiratory difficulties: Severe manifestations of TCS can include choanal stenosis or atresia (narrow or blocked nasal airway), leading to life-threatening breathing problems, such as sleep apnea.
- Feeding and speech challenges: Some children with TCS will have openings on the roof of the mouth (cleft palate) or upper lip (cleft lip), resulting in feeding and speech and language development issues.
Like TCS, Pierre Robin sequence symptoms are characteristic. Children with this congenital condition often have small lower jaws and chins.
These craniofacial abnormalities can displace the tongue, so affected individuals may also have glossoptosis, which can cause respiratory concerns such as stridor or stertor (noisy breathing).
PRS also has a cleft palate-craniofacial association, meaning your child may have a U-shaped cleft palate due to the unnatural tongue development and position.
Causes
As a parent, it’s difficult not to blame yourself if your child is born with TCS or PRS. After all, it may be because of something you did or didn’t do enough during the pregnancy.
Still, other reasons are believed to influence the occurrence of these conditions.
For instance, external environmental factors like UV (ultraviolet) radiation from sunlight exposure and contracted viruses have been proposed as potential causes of TCS.
At the same time, some researchers suggest that a lack of fluid in the womb can be the flashpoint for the Pierre Robin sequence.
However, most medical experts agree that genetic mutations that occur in your child’s fetal development are the primary culprit for TCS and PRS manifestations.
For TCS, researchers link the craniofacial anomalies that come with the condition to unwanted changes to the TCOF1 gene (treacle ribosome biogenesis factor 1).
The deletion of this chromosome 5 gene affects the development of your child’s facial cartilage, bone, and connective tissue.
Other genetic materials suspected to cause Treacher Collins syndrome include the following:
- POLR1B (polymerase I subunit B)
- POLR1C (polymerase I subunit C)
- POLR1D (polymerase I subunit D)
These genes are involved in rRNA (ribosomal ribonucleic acid) transcription and formation or protein production.
Unfortunately, the precise cause of the Pierre Robin sequence has yet to be determined.
However, medical professionals also suspect genetic mutations in fetal development as the cause of the condition, due to a high incidence of PRS in twins.
As observed in this genetic link, TCS and PRS can be inherited, often following an autosomal dominant inheritance pattern.
In other words, an altered gene in one parent is enough to pass down the mutation and, by extension, the condition, as is the case in roughly half of TCS cases.
In rare cases, however, Treacher Collins syndrome can follow an autosomal recessive pattern, requiring both parents to have the faulty genes.
Do understand, however, that research around the etiology of TCS and PRS is still ongoing, especially considering that around 60% of TCS cases occur randomly—not inherited.
Diagnosis
Patients with TCS have distinctive symptoms. However, individuals with PRS may share facial features with the former, particularly an underdeveloped lower jaw.
This overlap makes accurate diagnosis essential, especially if you want to provide your child with a comprehensive treatment plan tailored to their unique needs.
Generally speaking, a diagnosis involves a physical examination. For TCS, this means checking your child for small upper and lower jaws, flattened cheekbones, misshapen ears, and notched eyelids.
For children suspected of having Pierre Robin sequence, a clinical evaluation for micrognathia, glossoptosis, and cleft palate will occur.
Other diagnostic methods may also involve X-ray examinations and CT (computed tomography) scans to assess your little one’s craniofacial structure thoroughly.
Some medical professionals may even order molecular genetic testing. A geneticist can help confirm if your child has the mutated genetic material associated with TCS and PRS.
At the Los Angeles Ear and Craniofacial Center, we take things further to ensure we accurately diagnose and manage your child’s unique condition.
We leverage several noninvasive diagnostic analyses, including the following:
- Transcutaneous pulse oximetry: This method allows us to measure oxygen pressure in your child’s papillary nutritive capillaries (blood vessels in the inner layer of the skin).
A low blood oxygen level (hypoxemia) indicates your baby has difficulty breathing.
- Polysomnography: This sleep study lets us determine if your child’s condition causes respiratory problems like sleep apnea.
- Laryngoscopy and bronchoscopy: These tests allow us to check for airway obstruction, which is essential for determining if tracheostomy (creating an opening in the windpipe) is necessary for your child.
If you want a complete diagnosis of your precious one’s congenital condition, schedule a free consultation with Dr. Tahiri.
Call (310) 255-4476 or email team@tahiriplasticsurgery.com. You can also fill out our contact form to send images of your child’s symptoms. Our compassionate staff will happily contact you as soon as possible.
Who Is Affected by These Conditions?
Treacher Collins syndrome and Pierre Robin sequence are rare. The former affects 1 in 25,000 to 50,000 live births with a 1:1 male-to-female ratio.
On the other hand, PRS occurs in around 1 in 8,500 to 14,000. It’s also equally common in males and females but is more prevalent in European populations.
However, some children are more prone to getting these craniofacial disorders than others.
Numerous studies suggest that children with a parent with TCS have a 40% higher risk of inheriting the condition. Children with a parent with PRS have a slightly higher risk at 50%.
Related Conditions and Diagnosis Differences
Although TCS and PRS have distinct features, they have symptoms similar to those of other congenital conditions.
These associated syndromes include the following:
- Nager and Rodriguez syndrome: These congenital disorders have similar facial features to TCS, such as small lower jaws and missing external ear canals.
However, Nager syndrome and Rodriguez syndrome also affect the arms, hands, and feet, causing underdeveloped thumbs, absent bones in the forearm, and webbed toes (syndactyly).
- Miller syndrome: Like TCS, children with Miller syndrome often have craniofacial abnormalities, such as malar hypoplasia, micrognathia, and cleft palate.
Unfortunately, Miller syndrome can also present as toe webbings, missing fingers and toes, and fused forearm bones (radioulnar synostosis).
- Acrofacial dysostosis: This syndrome shares several tell-tale signs of PRS, such as an underdeveloped mandible. It also shares symptoms with TCS, such as colobomas.
But unlike TCS and PRS, acrofacial dysostosis can also cause underdeveloped bones in the pelvis and limbs, including short fingers, bowed femurs, or missing bone formations (ossification).
- Hemifacial Microsomia and Goldenhar syndrome: Although these conditions also cause similar malformations in the jaw, mouth, and ears to TCS, they often appear unilaterally (on one side of the body).
Unlike TCS, however, hemifacial microsomia and Goldenhar syndrome symptoms can also appear in the cardiac, skeletal, and renal systems and extremities.
- Stickler syndrome: PRS can be a complication of Stickler syndrome, which is why the latter is often associated with the former.
This congenital disorder impacts the connective tissues that provide structure and support to the various organs of your child’s body, including those in the craniofacial region and joints.
Treatment Options
TCS or PRS diagnosis can be gut-wrenching for any parent. But despite the potential challenges your child may face because of their condition, you shouldn’t feel helpless.
Researchers have yet to find a cure for Treacher Collins syndrome and Pierre Robin sequence. However, various options are available to correct and manage the symptoms of these congenital disorders.
For instance, breathing issues caused by TCS and PRS can be alleviated by:
- Positioning techniques: Implementing positioning techniques, such as putting your baby in a prone position (face-down on their belly), can help improve their oxygen levels.
- Tracheostomy: This treatment option involves surgically creating an opening in your child’s neck to allow air to fill their lungs.
- Tongue-lip adhesion: Also known as glossopexy, this surgical intervention prevents your child’s tongue from falling back and obstructing their airway by connecting it to their lower lip.
- Mandibular distraction osteogenesis: This procedure involves lengthening your baby’s lower jaw to address respiratory issues by cutting their mandible and inserting a distractor device.
- Nasopharyngeal intubation: This option can help ease your child’s breathing by bypassing the airway obstruction via a tube through their nose.
For feeding and speech development problems, which are common in children with TCS and PRS, you can consider:
- Gastrostomy: If your child is having difficulties feeding due to their craniofacial features, this option allows them to get the necessary nourishment to their stomach via a tube.
- Speech therapy: Children with TCS and PRS can experience speech and language development delays. Consulting a speech-language pathologist may help solve this issue.
If your child with TCS or PRS has conductive hearing loss, they can use bone-anchored hearing aids. These devices use vibrations to transmit sounds directly to your baby’s inner ear.
To correct craniofacial anomalies caused by TCS and PRS, some of your options include:
- Jaw surgery: Children with TCS and PRS may experience teeth crowding due to small jaws. Orthodontic treatment can help your baby’s teeth grow into their correct positions.
- Plastic surgery: For craniofacial malformations caused by TCS, such as deformed ears or flattened cheeks, you can pursue procedures like microtia surgery, and cheek augmentation.
For facial deformities like a cleft palate, which often occurs in children with PRS, your little one may undergo cleft palate repair.
Based on the treatment options listed above, it’s clear that there are various ways to address the many problems caused by TCS and PRS.
The challenge lies in determining which ones are right for your child. For this reason, it’s critical to work with the right craniofacial team.
Fortunately, Dr. Youssef Tahiri and the Los Angeles Ear and Craniofacial Center team specialize in providing treatment plans tailored to the unique needs of every patient.
Schedule a free consultation to discuss the most effective options for your little one’s unique case. Call us at (310) 255-4476 or email team@tahiriplasticsurgery.com.
Support for Families
There’s no denying that living with Treacher Collins syndrome and Pierre Robin sequence can be challenging—for you and your child. But you shouldn’t navigate this journey alone.
Here are some tips for caring for your child with TCS or PRS:
- Regular check-ups: The pathogenesis of TCS and PRS can vary significantly from case to case. Some patients can live their lives to the fullest with only minor inconveniences, while others aren’t as lucky.
Therefore, you must maintain regular appointments with your child’s primary healthcare provider to monitor treatment progress and address potential concerns.
- Encourage activities: Due to their craniofacial features, your child may experience feelings of social isolation, self-esteem issues, and psychosocial challenges.
However, it’s critical not to treat them differently from other children. So, urge them to participate in sports and art or music activities. Remember, you’re your child’s primary source of support.
- Seek support: There’s nothing wrong with asking for help, especially for managing the symptoms of complex conditions like TCS and PRS. So, don’t hesitate to reach out.
You could seek emotional aid from your family, talk to other parents who have children with these congenital disorders, or participate in support programs.
If you need an extra hand, our compassionate team will gladly answer your questions and even connect you with doctors who can give your baby the best odds of leading a fulfilling life.
What to Expect in the Long Term
The severity of TCS and PRS varies from person to person. For instance, if your child’s condition is causing breathing and feeding difficulties, they may require surgical intervention.
But generally speaking, children with Treacher Collins syndrome, Pierre Robin sequence, or both need ongoing treatment and support to improve their quality of life.
While that may sound disheartening, you can rest easy knowing that children with these congenital craniofacial conditions typically live as long as babies who don’t—with the proper care.
Clinical Trials and Research
Medical professionals are continually working to understand and treat TCS and PRS. Although there’s currently no cure for both conditions, ongoing research offers hope for the future.
For TCS, here are some of the latest findings and developments:
- Targeting p53: Researchers are exploring avenues to inhibit the p53 protein, which is crucial in cell death and can contribute to craniofacial disorders like TCS.
- Dietary supplements: Some studies suggest that antioxidant supplements may protect cells during early development, potentially helping craniofacial growth.
- Stem cell therapy: Scientists are investigating using stem cells from fat tissue to stimulate tissue growth and repair in individuals with craniofacial abnormalities.
As for the latest research on PRS, medical experts have found a rare variant of PRS, known as intellectual disability-brachydactyly-Pierre Robin syndrome.
Unlike most PRS cases, which distinctively manifest as craniofacial deformities, intellectual disability-brachydactyly-Pierre Robin syndrome causes mild to moderate intellectual disability in affected individuals.
As research on these congenital conditions progresses, new treatments and therapies may emerge that can help address your child’s challenges.
So, you must stay informed and consult with your healthcare provider to discuss the latest advancements and options for your baby.
What Is Pierre Robin Syndrome?
Like TCS, Pierre Robin sequence is a congenital condition that affects your baby’s craniofacial development, leading to anomalies like a small lower jaw or cleft palate.
Unfortunately, these facial features can cause various challenges, including potentially deadly respiratory issues and feeding problems.
“When Should I See My Healthcare Provider?”
If you notice signs of PRS in your newborn, such as distinctive facial features and difficulty breathing, it’s critical to seek immediate medical attention.
After all, early diagnosis and intervention can make all the difference in crafting a tailored treatment plan to manage your child’s condition effectively.
“What Questions Should I Ask My Healthcare Provider?”
It’s easy to get caught up in asking your primary healthcare provider as many questions as possible when your child has PRS.
However, some questions are more important than others in helping you understand your baby’s condition and, most importantly, potential treatment options.
So, ask the following questions:
- The severity of the condition: “How severe is my baby’s case of PRS?”
- Underlying conditions: “Are there any other underlying health conditions contributing to PRS?”
- Recommended treatment: “Is surgery necessary, and when can it be scheduled?”
- Airway management: “How can I help with my baby’s airway management at least until surgery?”
- Feeding techniques: “Are there specific feeding techniques or special bottles that can help my baby eat?”
- Long-term outlook: “What is the long-term prognosis for my child with PRS?”
Asking these crucial questions can help you gain valuable insights into your baby’s condition and make informed decisions about their care.
A Note From Dr. Tahiri
We understand that your child being diagnosed with Treacher Collins syndrome or Pierre Robin sequence can be a harrowing and daunting experience.
Countless questions and worries are likely swirling around in your mind, such as:
- “What does this diagnosis mean for my baby?”
- “Is there anything I can do to ease my child’s situation?”
- “Whom can I trust with my precious little one’s medical care?”
While we can’t imagine what you’re going through and what you’re feeling, don’t worry.
Know that everyone at the Los Angeles Ear and Craniofacial Center wants to provide the best care possible for your child as much as you do.
Our experienced, highly trained, and compassionate team is ready to assist you, from easing your concerns to providing a comprehensive treatment plan for your baby’s unique needs.
“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 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
Contact Us
Schedule a free consultation to learn more about how Dr. Tahiri and the Los Angeles Ear and Craniofacial Center can help your child with Treacher Collins syndrome or Pierre Robin sequence.
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, you’re not alone!
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