Overview

Treacher Collins Syndrome (TCS), also called mandibulofacial dysostosis, is a rare genetic condition that a baby is born with. It is commonly known to affect the development of facial bones and tissues, which can lead to a variety of challenges. 

People with TCS might have: 

• Underdeveloped facial bones, including the skull
• Small or misshapen ears and cheekbones
• Eyes that slant downward
• A small jaw
• Hearing and vision problems
• A cleft palate
• Difficulty with their breathing, feeding, and swallowing
• Dental issues
• Suffer from emotional and social challenges

This condition happens in the early stages of pregnancy when the baby’s cheekbones, jaw, and eye sockets do not develop properly. Because of this, individuals with TCS often have unique facial features, such as downward-slanted eyes and a smaller jaw.¹ The causes of TCS is usually associated with genetic mutations, but in many cases, children with this condition often have a family member with TCS. However, it can also occur randomly.²

Importance of understanding complications

Getting a clear understanding of TCS complications is important for early diagnosis and effective treatment, which will help improve the quality of life in TCS patients. Since medical needs and requirements vary in different people, early interventions will help healthcare providers be able to tailor care, ensuring better health and development in childhood while preparing individuals for future challenges.² 

Sleep apnoea and respiratory challenges

Sleep apnoea is a condition which occurs when your breathing repeatedly stops and restarts during your sleep.

Symptoms include: 

• Frequent pauses in breathing while sleeping
• Loud snoring
• Waking up several times during the night
• Making noises like gasping, choking or snorting while sleeping³

Causes of sleep apnea in TCS 

Airway obstruction and craniofacial abnormalities

People with TCS have a higher risk of developing sleep apnoea because of micrognathia Due to this, it is crucial for individuals with TCS to undergo sleep studies to check for sleep apnoea ⁴ 

The increased risk is mainly caused by glossoptosis, where the tongue is positioned further back in the mouth than usual, potentially blocking the airway. Additionally, the oropharyngeal airway (the part of the throat behind the mouth) is smaller in people with TCS, further contributing to breathing difficulties during sleep. The structure of their jaw also plays a role as the lower jaw (mandibular body) is longer and the upper portion (mandibular ramus) is shorter, which can lead to even more airway obstruction, making sleep apnoea more likely.⁵ 

A study of 35 TCS patients (including 13 children) found 46% had sleep apnoea, with a higher prevalence in children (54%) than adults (41%). 17 patients underwent 38 airway surgeries, revealing multi-level obstructions from the nasal septum to the trachea, mainly in the oro/hypopharynx. Due to these risks, regular sleep studies and medical interventions are essential. Since single-level surgery would not fully resolve the issue, treatments like non-invasive ventilation (CPAP/BiPAP) or tracheotomy should be considered.⁶

Diagnosis

People who have TCS should be screened for sleep apnoea using polysomnography (a sleep study) due to their higher risk. This helps doctors detect any airway and craniofacial abnormalities contributing to breathing issues, as well as the presence of sleep apnoea.⁴

Other diagnostic tests include

• CT scans or X-rays
• Physical examination 
• Genetic testing

An endoscopy may also be needed to help assess airway obstruction (multilevel obstruction) before deciding on the required treatment. 

Treatment

Continuous positive airway pressure (CPAP)

CPAP is a common and effective therapy used for severe upper airway obstruction in TCS. It works by delivering constant air pressure through a mask to keep the airway open during sleep.⁷ 

• Often used alongside surgery to address structural issues
• Studies have shown that it significantly reduces daytime fatigue, snoring, and overall sleep apnoea symptoms in individuals with TCS⁸

Tracheostomy

Tracheostomy is a medical procedure where a tube is placed in the trachea (windpipe) through an opening in the neck, allowing air to bypass the upper airway for it to reach the lungs directly.

Mandibular distraction osteogenesis

This type of surgical procedure lengthens the mandible by gradually separating the bone using a distraction device, which allows new bone tissue to form in the gap.

A study on a 10-year-old girl with TCS who had been diagnosed with obstructive sleep apnoea found that after expanding her mandible by 15mm, her breathing had improved and she was able to sleep comfortably. Additional research supports that this procedure helps to effectively increase airway space, reducing sleep apnoea risks in TCS patients ¹⁰

Increased risk of infections

Ear infections

Ear infections are very common and occur in individuals with TCS due to the irregular shape and structure of their ears, along with the underdeveloped internal components. This can result in a higher incidence of infections and subsequent hearing loss or impairment.

Structural ear abnormalities 

Ear abnormalities might include:

• Small, malformed, or absent ears (microtia)
• Narrow or blocked ear canals (atresia/stenosis) 

TCS mostly affects the external and middle ear, while the inner ear is usually unaffected. Around 40-50% of individuals experience conductive hearing loss, which is often due to malformed middle ear bones and underdeveloped ear cavities. A study found that patients with more severe microtia often had additional ear malformations.¹² 

Eustachian Tube Dysfunction (ETD)

Eustachian Tube Dysfunction (ETD) occurs when the eustachian tube (which connects the middle ear to the back of the throat) does not open or close properly, leading to:

• Difficulty equalising ear pressure 
• Fluid buildup 
• Hearing issues, pain, a feeling of fullness and hearing loss

Due to TCS-related structural differences, ETD is more common in affected individuals as the Eustachian tube cannot function properly. Another infection risk is Chronic Otitis Media.

Hearing loss

Hearing loss is a significant issue in TCS. Studies report “Different ratios of TCS patients have conducted hearing loss: 88% vs 91.4%-100.00%¹³”. This suggests that while the exact prevalence may differ, hearing loss is still very common among individuals with TCS, representing a significant long-term challenge that many have to cope with.

Respiratory infections

Many people with TCS experience nasal complications, even though the nose is not always recognised as a key craniofacial feature of the condition. There is very little research on nasal deformities in TCS despite their possible link to sleep apnoea, highlighting the need for further study.¹⁴ 

Frequent sinus infections are common due to the structural abnormalities affecting drainage. The underdeveloped facial bones can cause serious airway issues, increasing the risk of aspiration pneumonia, periodontal disease, and respiratory complications.¹⁵ A case study reported a 40-day-old infant with TCS who developed sudden respiratory distress leading to respiratory failure and pneumonia, requiring intensive care, ventilation, tracheostomy, and gastrostomy for treatment.¹⁶

Preventative measures

• Antibiotics - May be prescribed by a doctor for certain infections, only use if prescribed!
• Vaccinations - Staying up to date with flu and pneumococcal vaccines can help prevent respiratory infections
• Medical Monitoring - Regular check-ups with healthcare providers can help detect infections early, which also allows them to assess sinus and airway function

Other health concerns

Feeding and nutritional difficulties

Young populations with TCS generally struggle with feeding due to micrognathia, cleft palate, and facial abnormalities that affect swallowing and sucking.² Another common issue people with TCS suffer from is malnutrition linked to upper airway obstruction (UAO) and increased nutritional needs.

Research involving 18 patients with facial dysostosis and severe UAO found:

• 95% had a higher risk of UAO leading to feeding and nutritional issues
• Some had a tracheostomy, mandibular distraction, and oxygen therapy 
• 13 patients had feeding complications, and 16 experienced malnutrition
• By the end of follow-up, severe UAO persisted in 12 patients, 7 still had feeding difficulties, 4 remained malnourished, and 2 died

The study concluded that individuals with facial dysostosis face a high prevalence of severe UAO, feeding difficulties, and malnutrition, emphasising the need for early intervention and nutritional support.¹⁷

Cleft palate 

Cleft palates are a common complication in 25% of the younger population with TCS, which often leads to feeding, speech, and ear problems. Facial differences make breast and bottle-feeding difficult due to dysphagia ^{2, 18}

Treatment options include:

• Cleft palate surgery
• Orthodontics 
• Dietitian support¹⁸ 

Vision and eye complications

Facial abnormalities in TCS can lead to many eye and vision problems. A study of 24 TCS patients found; all had eye abnormalities, 37% had vision loss, 33% had amblyopia, 58% had significant refractive errors, 17% had anisometropia, 37% had strabismus, and 96% had eyelid and adnexal abnormalities.¹⁹

• Coloboma (54-69%) - Missing tissue in the lower eyelid²⁰ 
• Dry eyes - Due to missing eyelashes and eyelid abnormalities, increasing an increased risk of infection and irritation

Out of 243 TCS patients in a study, the most common eye issues found were:²¹

• Exposure keratopathy (14.4%) - Corneal damage from dryness caused by incomplete eyelid closure.
• Epiphora (24.2%) - Excessive tearing

Speech and developmental challenges

Delayed speech caused by hearing impairments

Speech difficulties in TCS are caused by jaw and mouth abnormalities, making articulation and language development challenging, especially with hearing loss. Another factor is prolonged hospitalisation in early childhood because of the limited social interactions with children their age.

A study found that speech deviations occur in all age groups, with children having significantly reduced intelligibility. Speech issues were linked to TCS severity and orofacial dysfunction.²²

Treatment options:

• Speech therapy
• Multidisciplinary approach involving audiologists, orthodontists, ENT specialists, and plastic surgeons
• Early interventions to support language development and long-term communication skills

Summary

• Early diagnosis and intervention help manage respiratory, feeding, and hearing issues, which improves quality of life for TCS patients. It also ensures that families receive proper support, therapy and surgical options
• Raising awareness and support empowers individuals with TCS. There are many organisations that provide education, resources, and treatments to help families navigate the condition