Treacher Collins Syndrome: Causes, Symptoms, and Treatment

If you’ve seen the movie Wonder starring Julia Roberts and Owen Wilson, you’ll know that their child has a facial deformity known as mandibulofacial dysostosis or Treacher Collins syndrome (TCS). It is a rare genetic condition that alters how your child’s face, head, and ears grow before birth.

In addition to TCS, it goes by a number of other names:

• Franceschetti-Zwahlen-Klein syndrome
• Treacher Collins-Franceschetti syndrome

Although parents can transmit the condition to their offspring through their genes, the syndrome frequently appears out of the blue.

Learn more about the condition’s signs and symptoms, its causes, and what you can do by reading on.

What Is Treacher Collins Syndrome?

The face’s development before birth is impacted by Treacher Collins syndrome (TCS). Children with TCS often have normal IQ and life expectancy, yet this can have an impact on a variety of factors.

TCS is brought on by a genetic mutation, or change in a person’s DNA, and is also known as Treacher Collins-Franceschetti syndrome and mandibulofacial dysostosis.

What Causes Treacher Collins Syndrome?

Three genes that regulate bone formation in and around the face have mutations (changes) in almost all TCS patients. Early in pregnancy, the mutation alters the baby’s growth. The gene responsible for the condition in a small subset of TCS patients is unknown.

Who Gets Treacher Collins Syndrome?

TCS is frequently brought on by a novel mutation. So, neither parent carries the TCS gene or exhibits TCS symptoms. If the mutation is fresh, sperm fertilised the egg first or very soon after the DNA change had taken place. Depending on which gene is impacted, a child who has one parent with Treacher Collins syndrome may also have it.

Low Cheekbones and Other Characteristics of Kids With Treacher Syndrome

Children with TCS may exhibit some, all, or a combination of the following traits:

• a lack of cheekbones or tiny ones
• downward-facing eyes
• ill-defined eyelids
• a tiny chin and lower jaw
• narrow upper jaw
• undersized, absent, or misaligned outer ears
• issues with the middle ear
• cleft palate 

What Are The Symptoms Treacher Collins Syndrome?

TCS symptoms can range from minor to severe. One family member may be significantly more affected by the same TCS mutation than another, a distinction known as penetrance.

 Low penetrance symptoms might be so faint that a parent with the mutation might not be aware of them until the mutation is passed to a kid who exhibits more pronounced symptoms (higher penetrance).

Treacher Collins syndrome frequently results in symmetrical abnormalities, which make both sides of the body appear the same. These abnormalities include:

• the outer corners of the eyes slanting downward
• droopy eyelids on the top
• Lower eyelid notches with few or no lower lid eyelashes
• Narrow cheekbones
• less teeth than normal; they could be misaligned and have uneven colouration.
• A tiny lower jaw (mandible) that overbite (the chin and lower teeth sit back from the upper teeth)
• Open or split upper lip and palate (cleft palate) (cleft lip)
• tiny, atypically shaped ears
• Tiny or nonexistent ear openings
• hearing loss as a result of the middle ear’s small bones’ limited ability to transmit sound

Can These Symptoms Cause Complications?

TCS’s physical traits can lead to a number of problems, some of which may be fatal.

Complications that could develop include:

• Breathing issues

Breathing issues may be brought on by a tiny airway. A breathing tube may need to be surgically placed into the trachea of your infant or placed down their throat (wind pipe).

• Sleep apnea

A narrowed or clogged airway can prevent your child from breathing during sleep, causing them to gasp or snore. Growth retardation, hostility, hyperactivity, attention deficit, memory issues, and learning challenges can all be brought on by sleep apnea.

• Eating problems

Your child may have trouble eating or drinking if they have a cleft palate, which is an opening in the roof of the mouth.

• Eye infections

Your child’s eyes could develop dry and infected as a result of the form of their eyelids.

• Hearing loss

Children with TCS will have hearing issues in at least half of the cases. Since the ear canal and its microscopic bones aren’t always properly formed, sound may not be transmitted effectively.

• Speech difficulties

Your child may have trouble learning to communicate due to hearing loss, as well as the way their mouth and jaw are shaped. Language development and intelligence are typically good.

• Cognitive delay

About 5% of kids with TCS will have neurological or developmental issues.

How Is Treacher Collins Syndrome Treated?

Visits with a craniofacial team of medical specialists on a regular basis are beneficial for people with Treacher Collins syndrome. Doctors and other healthcare professionals with specialised training are on the team.

• Skull and brain problems (neurosurgery)
• Issues with the ears, nose, and throat (otolaryngology)
• hearing (audiology)
• Eye issues (ophthalmology)
• The face and head’s structure (plastic and craniofacial surgery)
• Dental and oral problems (dentistry and maxillofacial surgery)
• Speech issues (speech-language therapy)
• genetics

At birth, treatment begins. Because their airways are small, newborns may have breathing difficulties. Some positions, such as stomach-lying, can facilitate better breathing. A youngster who has significant breathing issues may require a tube to be placed into their windpipe (a tracheostomy).

Some infants struggle to eat, especially if it causes breathing difficulties. Thus, they might require a feeding tube inserted via the nose into the stomach.

The majority of facial reconstructive surgeries are performed over a period of years when the child is older, unless a child with TCS has breathing or eating issues. The appearance can be improved with surgery on the face and jaw, which also benefits a child’s social relationships and self-esteem.

A newborn’s hearing should be examined, as should a child’s hearing over time. Hearing aids that transfer sound via the bone rather than the middle ear can function well because the inner ear still functions normally in the majority of children with TCS. The need for speech-language therapy is common.

Children with TCS require routine eye exams to look for issues with vision, eye movement, and cornea exposure (since they are unable to completely close their eyelids).

How Can Parents Help Children With Treacher Collins Syndrome?

Finding a cleft and craniofacial team to look after your child is important. Request suggestions from your child’s paediatrician or search online for ACPA-accredited craniofacial teams in your area.

For both a child and the entire family, having Treacher Collins syndrome can be difficult. To assist:

• Be there for your child

Help your child discover a pastime or activity they enjoy. Your child can acquire a talent and experience a sense of fulfilment if you encourage them to persevere.

• Enquire about therapy

A consultation with a psychologist or other mental health specialist may be beneficial if your child experiences social anxiety.

• Consult a genetic counsellor if possible

You can better understand the dangers of the condition for future pregnancies with the aid of a genetic counsellor. Consult your physician for advice.

Your child’s capacity to breathe, eat, talk, sleep, and lead a complete life can all be restored with a thorough and skillfully carried out treatment plan. The length and complexity of treatment may vary depending on how severely your child is impacted.

Consider the psychological requirements of both you and your child. Reaching out to mental health specialists and support groups of other families dealing with hereditary illnesses that necessitate substantial surgical treatment may prove to be beneficial.