Treacher Collins Syndrome

Treacher-Collins syndrome (TCS), also known as mandibulofacial dysostosis, is a rare genetic condition that affects the development of the face and ears. It can cause a variety of facial features, hearing problems, and breathing difficulties in children.

With proper treatment and regular medical care, children diagnosed with Treacher Collins syndrome can lead long and healthy lives. Early intervention is crucial for optimal outcomes, as untreated cases may lead to complications necessitating ongoing medical attention.

It’s worth noting that Treacher-Collins syndrome is sporadic, affecting approximately 1 in every 50,000 children worldwide

Symptoms of Treacher Collins Syndrome:

Children diagnosed with Treacher-Collins syndrome often exhibit distinct facial features, including:

1. Eyelids with a downward slant.
2. Small and flattened cheekbones.
3. Small lower jaw.
4. Small or irregularly shaped ears.
5. Notched eyelids.

Causes of Treacher Collins Syndrome:

Treacher-Collins syndrome is primarily linked to genetic mutations, which are changes in DNA. While approximately half of affected children have a biological family member with the condition, it can also occur sporadically without a clear cause.

Complications Associated with Treacher Collins Syndrome:

Children with TCS may experience various complications, including:

1. Hearing loss stemming from narrow or absent ear canals.
2. Breathing difficulties due to underdeveloped facial structures, which can obstruct airways.
3. Cleft palate, is a condition characterized by a gap in the roof of the mouth. This can result in feeding difficulties in infants and speech challenges in young children.

Diagnosis and Tests

Doctors often diagnose TCS during routine newborn exams. If your child shows signs, a genetics specialist may be involved for further testing. Referral to a genetics specialist may be necessary for a comprehensive evaluation and diagnosis.

Management and Treatment

Treatment for TCS is tailored to each child’s specific needs and medical requirements, as not all cases are alike. The treatment approach aims to improve health and function from infancy through childhood, often involving surgical interventions.

Early Surgical Interventions:

• Surgery may be necessary early in life to address breathing difficulties. In some cases, a tracheostomy, a surgical procedure to create an opening in the windpipe, may be required to aid breathing.

Reconstructive Surgery:

Reconstructive surgery plays a vital role in treating structural abnormalities and improving overall health. Specific areas that may require surgical intervention include:

• Jaws: Surgery to align jaws and correct bite issues can alleviate eating and breathing challenges.
• Mouth: Some children may need cleft palate surgery, tooth extractions, or orthodontic treatments to address dental crowding.
• Nose: Surgical procedures can open airways by addressing excess tissue in nasal passages.
• Ears: Options such as ear tubes, hearing aids, or reconstructive surgery may be necessary to manage ear-related symptoms and improve hearing.
• Eyes: Surgery may be performed to correct abnormalities such as a notch in the lower eyelids.
• Cheekbones: Reshaping surgery can help alleviate feeding and breathing difficulties caused by small cheekbones.

Cosmetic Surgery Considerations:

After completing growth, typically in late teens or early adulthood, individuals with Treacher Collins syndrome may explore cosmetic surgery options to address any remaining aesthetic concerns.

Treating TCS involves a multidisciplinary approach, with healthcare providers collaborating to provide comprehensive care tailored to the individual needs of each child.

Prevention

Treacher-Collins syndrome arises from genetic changes, making it impossible to prevent. Families with a history of the syndrome may consider genetic counseling to assess the risk of passing it down to future generations.

Outlook/Prognosis

Treacher-Collins syndrome itself cannot be cured, but surgical interventions can address complications such as facial differences, breathing difficulties, and hearing loss. With appropriate treatment and regular follow-ups, individuals with TCS can lead fulfilling lives. Without treatment, complications may arise, necessitating lifelong medical care.

Life Expectancy

People with Treacher-Collins syndrome typically have a normal lifespan if they receive necessary treatment during childhood. Treatment and regular medical check-ups can alleviate symptoms and enhance quality of life.

Living With TCS

While there’s no cure for TCS, treatment can address complications and improve quality of life. Here’s what you can do:

• Seek support: Caring for a child with Treacher-Collins syndrome may seem daunting, but healthcare providers are available to offer support and guidance. Talk to your doctor about your child’s specific needs and treatment timeline. Support groups can also be helpful.
• Encourage development: TCS doesn’t affect intelligence. Promote your child’s learning and exploration through play and activities.
• Ask questions: Don’t hesitate to ask your doctor about your child’s health, appearance, and development.

Questions to Ask Your Doctor

When discussing your child’s condition with their healthcare provider, consider asking about how Treacher Collins syndrome affects them, potential medical complications, the need for surgery, its timing, and its impact on their development.

Additional Considerations

• Prenatal detection: Ultrasounds may detect severe TCS cases, but not always.
• Inheritance: If you have TCS, there’s a 50% chance of passing it to your children. Genetic counseling can help assess this risk.
• Brain development: No evidence suggests Treacher Collins syndrome affects brain development or intelligence. Hearing loss may cause developmental delays, but treatments like hearing aids and speech therapy can mitigate these effects.

Sources

1. Clevland clinic
2. Seattle Children’s: Chromosomal and Genetic Conditions
3. National Organization for Rare Diseases
4. Cleft Palate Foundation
5. National Institutes of Health
6. National Craniofacial Association, FACES