Treacher Collins Syndrome in Children Symptoms Causes and Treatment

Treacher Collins Syndrome in Children is a rare genetic condition that affects the development of the bones in the face and skull. Children with this syndrome often show noticeable facial differences, such as underdeveloped cheekbones, a small jaw, and problems with the ears and eyes.

This condition doesn’t only affect appearance—it can also lead to difficulties with hearing, speech, and sometimes breathing. Early diagnosis and proper medical follow-up are very important to improve the child’s quality of life and reduce both physical and psychological complications.In this Dalili Medical article, we will explore the causes of Treacher Collins Syndrome in children, its symptoms, types, diagnostic methods, treatment options (both medical and surgical), as well as preventive tips and psychological support for the child.

What is Treacher Collins Syndrome in Children?

Treacher Collins Syndrome (TCS) is a rare genetic condition that affects the size, shape, and position of the ears, eyes, cheekbones, and jaw in children. It may cause feeding difficulties, breathing problems, or hearing loss. The condition is also known as mandibulofacial dysostosis.

The symptoms vary from child to child—some may have very mild signs, while others may experience severe features that require surgical correction, such as cleft palate repair or treatment for hearing loss.

With early treatment and regular medical follow-up, most children with TCS can live a normal, healthy life. Without intervention, however, long-term complications may occur, requiring continuous care.

Treacher Collins Syndrome affects about 1 in every 50,000 children worldwide.

Life Expectancy

Children with TCS usually have a normal life expectancy if they receive proper treatment. Regular medical care helps improve symptoms and ensures better quality of life, while lack of treatment may lead to ongoing complications.

Can Treacher Collins Syndrome Be Detected Before Birth?

Yes. Prenatal ultrasounds can sometimes detect signs of TCS by monitoring the baby’s facial development. Features may become noticeable in the second trimester. In some cases, imaging can reveal severe forms of the syndrome, although this is not always guaranteed.

Can People with Treacher Collins Syndrome Have Children?

Yes. Individuals with TCS can have children. If one parent has the condition, there is a 50% chance that their child will also inherit it.

Does Treacher Collins Syndrome Affect the Brain?

No. TCS usually does not affect brain development or intelligence. However, hearing loss may sometimes cause delays in speech or learning, which can be managed with hearing aids and early speech therapy.

Chances of Having a Child with TCS

If one parent is affected: 50% chance of passing it on to their child.
If there is no family history: it is rare for a second child in the same family to be affected.

What Causes Treacher Collins Syndrome?

The condition is usually caused by a genetic mutation. In families without a history of TCS, it often results from a new (de novo) genetic mutation in the child.

Causes and Risk Factors of Treacher Collins Syndrome

1️⃣ Infections and Environmental Factors
There is currently no strong evidence that infections or environmental exposure cause TCS. It is primarily a genetic condition. While the environment may affect overall health, it does not directly cause the syndrome.

2️⃣ Genetics
The main cause is a mutation in the TCOF1 gene, which is responsible for producing a protein essential for the development of facial bones and tissues.
In some cases, mutations in the POLR1C or POLR1D genes may also cause the syndrome.
Inheritance is usually autosomal dominant, meaning that one altered gene copy from either parent is enough to cause TCS.

3️⃣ Lifestyle and Nutrition
Lifestyle or diet does not directly cause TCS.
However, maintaining a balanced diet, exercising, and avoiding harmful substances can improve overall health and help manage associated symptoms.

4️⃣ Main Risk Factors

Age: TCS is congenital, present from birth.
Gender: Affects males and females equally.
Geography: No significant differences in prevalence by location.
Family history: Having an affected parent increases the risk of passing it on.

5️⃣ When Do Facial Differences Appear?
Most abnormalities develop during the first trimester of pregnancy, when the baby’s major facial structures are forming. After this stage, the organs continue to grow, but the main defects are already established.

Facial Abnormalities in Treacher Collins Syndrome

TCS mainly affects the bones and soft tissues of the face, and severity differs from one child to another. Common abnormalities include:

1️⃣ Facial Bone Abnormalities

Underdeveloped or flat cheekbones.
Small or missing lower jaw (micrognathia), leading to difficulty in chewing or swallowing.
In some cases, a small or absent upper jaw, affecting facial balance.

2️⃣ Ear and Hearing Abnormalities

Small or deformed external ear (microtia).
Missing ear canal (atresia) in some children, which can cause partial or complete hearing loss.

Ear Bone Problems

Abnormalities in the middle ear bones can sometimes cause partial hearing loss.

3️⃣ Eye and Eyebrow Problems

Downward slant of the eyes due to underdeveloped cheekbones.
Eyebrows may be thinner or set lower in some children.
Eyelid or eyelash issues that may require medical intervention.

4️⃣ Mouth and Dental Abnormalities

Cleft palate (split in the roof of the mouth) in some cases.
Dental growth or alignment issues due to a small jaw.

5️⃣ Secondary Effects

Breathing or swallowing difficulties in severe cases because of a small lower jaw or facial deformities.
Speech and language delays due to jaw and mouth problems.

Types of Treacher Collins Syndrome in Children

Treacher Collins Syndrome is a genetic condition that affects the bones of the face, jaw, and ears. Its severity varies from child to child. It is usually classified into:

1️⃣ Mild Type

Slight facial or jaw deformities, sometimes only noticeable during medical examination.
Small or mildly malformed ears.
Speech and hearing are usually normal, with no major surgical intervention required.
Often detected during infancy or early tooth development.

2️⃣ Moderate Type

More visible deformities in the cheeks, lower jaw, and mouth.
Noticeably malformed ears, sometimes requiring surgery or hearing aids.
Moderate speech and language problems, especially with a cleft palate.
Surgical interventions may be needed to correct bone or jaw abnormalities.

3️⃣ Severe Type

Very pronounced deformities of the face, jaw, eyes, and ears.
Breathing and swallowing difficulties may appear right after birth.
Significant hearing and speech problems requiring continuous care and hearing devices.
Surgical treatment is often essential to correct bone, jaw, and ear deformities, and to improve essential functions like eating, speech, and breathing.

Important Notes

Severity can differ even among children in the same family.
Early diagnosis and follow-up with a multidisciplinary team (pediatrics, craniofacial surgery, audiology, speech therapy) reduce complications and improve quality of life.

Symptoms of Treacher Collins Syndrome in Children

Treacher Collins Syndrome is a rare genetic disorder that affects the development of the face, jaw, and skull bones. Symptoms vary from child to child and are usually noticeable at birth or during early infancy.

1️⃣ Bone and Facial Symptoms

Facial bone deformities, especially underdeveloped lower jaw (micrognathia).
Reduced or absent cheekbones, giving the face a flatter appearance.
Abnormal forehead or eyebrow shape.
Jaw and mouth deformities, leading to difficulty in normal mouth opening or closing.

2️⃣ Ear and Hearing Symptoms

Small, malformed, or missing outer ears.
Hearing problems: partial or full hearing loss caused by deformities in the middle ear bones.
Some children may need hearing aids or surgery to improve hearing.

3️⃣ Eye and Eyelid Symptoms

Downward-slanting eyes or a low lower eyelid.
Sometimes incomplete eyelashes or eyelids.
Vision problems or light sensitivity if the deformity is severe.

4️⃣ Other Symptoms Related to the Mouth and Jaw

Cleft palate in some cases.
Difficulty eating or swallowing due to jaw and mouth shape.
Speech and language problems as the child grows.

5️⃣ Psychological and Social Effects

The child may feel embarrassed or uncomfortable due to facial differences.
Low self-esteem or difficulty in social interaction if adequate psychological support is not provided.

Stages of Treacher Collins Syndrome in Children

Treacher Collins Syndrome is a genetic condition affecting the development of facial bones, jaw, and ears. Its severity varies from child to child. Knowing the stages helps parents and doctors intervene early and provide appropriate care.

1️⃣ Neonatal Stage (Birth – 1 Month)

Visible facial abnormalities such as low cheekbones, small lower jaw, and sometimes cleft palate.
Ear deformities: small size or partial absence.
Breathing or swallowing difficulties in severe cases, requiring immediate medical attention.
Diagnosis is usually based on clinical examination and visible features.

2️⃣ Infancy Stage (1–12 Months)

Ongoing breathing and swallowing problems, especially if there is a cleft palate.
Possible hearing loss due to middle ear abnormalities.
Early monitoring of jaw and teeth development to plan future surgical interventions.
Early speech and hearing therapy to prevent delays in language development.

3️⃣ Early Childhood (1–5 Years)

Speech difficulties become more noticeable, particularly with cleft palate or jaw issues.
Early reconstructive surgery to correct skeletal deformities, especially jaw and ears, is most effective.
Psychological and social development assessment to support the child’s confidence and coping with facial differences.

4️⃣ Late Childhood (6–12 Years)

Most skeletal deformities are visible, allowing precise surgical planning for functional and cosmetic improvement.
Continuous monitoring of jaw and teeth before orthodontic treatment.
Hearing and speech reassessment to address any delayed issues.

5️⃣ Adolescence (13–18 Years)

Focus on final reconstructive or cosmetic surgery to enhance facial and jaw appearance.
Support for psychological and social growth to strengthen self-esteem.
Comprehensive evaluation of hearing and speech, with any needed interventions before adulthood.

Diagnosis of Treacher Collins Syndrome in Children

Treacher Collins Syndrome is a rare genetic condition affecting facial and jaw development. Early diagnosis is crucial to provide proper medical support and improve the child’s quality of life.

1️⃣ Clinical Examination

Observe facial features: low or partially absent cheekbones, small lower jaw, downward-slanting eyes.
Ear assessment: size, shape, and any deformity or partial absence.
Oral and jaw examination: cleft palate, small jaw, dental issues.
Eye and eyelid evaluation: low lower eyelid or incomplete eyelashes.

2️⃣ Hearing Tests

Early hearing tests to detect partial or total hearing loss due to middle ear bone deformities.
Hearing aids or surgical interventions may be recommended depending on severity.

3️⃣ Imaging Studies

X-rays: assess the shape of facial bones, jaw, and ears.
MRI: examine skull bones and surrounding tissues.
CT scans: precisely determine bone and jaw deformities, especially before surgery.

4️⃣ Genetic Testing

Gene tests: detect mutations in TCOF1, POLR1C, or POLR1D associated with the syndrome.
Genetic testing confirms the diagnosis and helps parents understand the risk of passing it to future children.

5️⃣ Functional Assessment

Speech: identify difficulties caused by jaw or palate shape.
Feeding and swallowing: especially with cleft palate or jaw issues.
Psychological and social support: monitor impact on self-esteem and social interaction.

Prevention of Treacher Collins Syndrome in Children

Treacher Collins Syndrome is genetic, caused by inherited genes or new mutations, so full prevention is not possible. However, certain steps can reduce risks or allow early management:

1️⃣ Genetic Counseling Before Pregnancy

If a parent or family member has the syndrome, genetic counseling is important before conceiving.
Helps understand the risk of passing the gene and plan for pregnancy.

2️⃣ Prenatal Genetic Testing

Genetic analysis of the fetus if there is a known family history.
Allows early diagnosis and preparation for proper care after birth.

3️⃣ Regular Prenatal Monitoring

3D ultrasound can detect some facial deformities before birth.
Early diagnosis allows planning a specialized medical team for the newborn.

4️⃣ Early Medical Support After Birth

Early interventions include hearing, breathing, feeding, and speech assessments.
Early care reduces physical and psychological complications and improves quality of life.

Important Notes:

The syndrome is not related to lifestyle or diet during pregnancy.
Focus is on early diagnosis and continuous medical follow-up to reduce complications and promote normal development.

Treatment of Treacher Collins Syndrome in Children

Treatment varies depending on the child’s specific needs. Not all children require the same care. The main goal is to improve health and function from infancy to childhood.

1️⃣ Early Treatment

In infancy, surgery may be needed to improve breathing, sometimes opening the airway.
Early intervention helps with eating, breathing, speech, and reduces complications.

2️⃣ Reconstructive Surgery

Used to correct skeletal deformities and improve facial, jaw, and mouth function:

Jaw: Orthognathic surgery corrects bite issues and feeding/airway problems.
Mouth and palate: Some children need cleft palate repair or dental/orthodontic treatment.
Nose: Removal of excess tissue in nasal passages to improve natural breathing.
Ears: Surgery to rebuild outer ear, insert ear tubes, or provide hearing aids if needed.
Eyes: Correct lower eyelid clefts if they affect vision or appearance.
Cheekbones: Reshaping small cheekbones if they affect feeding or breathing.

3️⃣ Cosmetic Surgery in Adolescence or Adulthood

After growth is complete, some individuals choose cosmetic surgery to enhance facial, jaw, nose, or ear appearance.

Important Notes

Treatment is individualized for each child based on the severity of deformities and specific needs.
Early intervention with a multidisciplinary team (pediatrics, craniofacial surgery, audiology, speech therapy) ensures the best functional and cosmetic outcomes.

Treatment of Treacher Collins Syndrome in Children

Treacher Collins Syndrome is a genetic disorder affecting the development of facial bones, jaw, and ears. Medication has very limited role, and treatment primarily focuses on surgery to correct skeletal deformities. However, some medications may be used to manage associated symptoms.

1️⃣ Medication

Medications do not correct bone deformities but help manage complications:

Infection control: Children with cleft palate or small jaw are more prone to ear or sinus infections. Antibiotics may be used when needed.
Hearing issues: Some children require ear drops or antibiotics to control infections before using hearing aids or undergoing surgery.
Breathing or swallowing problems: Medications can sometimes relieve congestion or respiratory infections, especially before surgery.
Postoperative pain: Safe pain relievers for children, such as paracetamol or anti-inflammatory drugs, help reduce swelling and discomfort after surgery.

2️⃣ Surgery

Surgery is the primary method to correct facial deformities in children. Multiple procedures are usually planned depending on the child’s age and severity of the condition.

A. Jaw and Oral Surgery

Mandibular reconstruction or enlargement of the lower jaw to improve:

Mouth movement and chewing
Breathing
Overall facial appearance
Usually performed after age 2 or later, depending on growth

B. Palate Surgery

Cleft palate repair to improve:

Speech
Swallowing
Reduce middle ear infections
Typically done between 6–12 months

C. Eye and Eyelid Surgery

Lower eyelid correction to protect vision and improve eye function

Appropriate age: 2–5 years, depending on need

D. Ear and Hearing Surgery

Otoplasty or reconstruction of the outer ear to correct deformities
Placement of hearing aids or cochlear implants to improve hearing
Timing depends on ear growth and size

E. Cosmetic Facial Bone Surgery

Reshaping cheekbones and forehead to improve facial symmetry and appearance
Usually after elementary school or based on child’s growth

3️⃣ Important Notes About Surgery

Most children require multiple staged surgeries to achieve optimal results.
Main goals:
- Improve vital functions (chewing, speech, breathing)
- Enhance appearance and boost self-esteem
- Reduce complications such as hearing or eye problems
The medical team typically includes:
- Pediatrician
- Craniofacial surgeon
- ENT specialist
- Speech therapist
- Audiologist