Definition

What is Treacher Collins syndrome?

Treacher Collins syndrome (TCS) is a rare medical condition that affects the development of bones and other tissues of the face before a baby is born, resulting in abnormalities in the head, face, and ears.

Other names for this syndrome are mandibulofacial dysostosis, Treacher Collins-Franceschetti syndrome, Franceschetti-Zwahlen-Klein syndrome, and zygoauromandibular dysplasia.

How common is Treacher Collins syndrome?

TCS affects about one out of every 50,000 babies born. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Treacher Collins syndrome?

Signs and symptoms of TCS include some parts of the body developing abnormally or incompletely. These body areas include:

  • Eyes, including lazy eye, an inability to focus, and vision loss
  • Lower eyelids, which may include notching and sparse or absent eyelashes
  • Cheekbones and jaw
  • Chin
  • Ears, which may include absent, small, malformed, or rotated ears
  • Hair displacement, in which hair grows in front of the ears and to the lateral cheekbones
  • An opening in the roof of the mouth called a cleft palate, with or without a cleft lip
  • Airways
  • Skull
  • Nose
  • Teeth

Hearing loss may occur due to abnormal development of the facial bones and incomplete or abnormal development of the ears.

TCS may also cause a delay in motor and speech development.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Treacher Collins syndrome?

TCS is caused by mutations in one of three genes:

  • TCOF1
  • POLR1C
  • POLR1D

A mutation in the TCOF1 gene causes the syndrome in 90–95% of people with TCS. A mutation in the POLR1C or POLR1D gene accounts for around 8% of people with TCS.

All these genes play vital roles in the early development of facial bones and tissues. When they are mutated, certain cells involved in the development of bones and tissues of the face self-destruct.

For a few people with TCS, the gene causing the problem is not known.

Risk factors

What increases my risk for Treacher Collins syndrome?

Approximately 40 percent of people with TCS have a parent, or, rarely, two parents who carry affected genes. In these cases, the gene abnormality causing TCS is inherited.

The remaining 60 percent of people develop TCS as the result of a new mutation — a mutation occurring for the first time.

If the mutation has been detected within a family, there is an increased risk of a new baby getting it and having TCS. Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Treacher Collins syndrome diagnosed?

A diagnosis of TCS is made based on the following:

  • Medical history
  • Genetic testing
  • Physical and radiographic exams

Radiographic exams may include different types of X-rays, or computed tomography (CT) scans to detect if the cheekbones and jawbone (mandible) have abnormally incompletely developed.

A craniofacial CT scan can be performed to analyze the anatomy of the head, neck, ears, and ear canal. Doctors use this scan where there is hearing loss during the first 6 months of a child’s life.

An examination of the teeth, to look for dental abnormalities, can also be performed when teeth first appear.

Genetic tests aim to detect mutations in the three genes that are known to cause TCS. Most of the time, genetic tests are not necessary to diagnose TCS, as a doctor can easily make a diagnosis by observing a person’s symptoms. Genetic testing is helpful for further family planning.

After the initial diagnosis, other tests can help determine the severity of TCS. Doctors may examine the following:

  • The airway to investigate predisposition to obstruction of the oropharynx
  • The roof of the mouth for clefts
  • The ability to swallow
  • Hearing ability
  • The eyes

How is Treacher Collins syndrome treated?

Treatment depends on the symptoms, and requires a team of medical specialists, including pediatricians, plastic surgeons, ear nose and throat specialists (ENTs), dentists ophthalmologists, and audiologists.

Treatment begins at birth. Newborns with TCS may have trouble breathing because their airways are narrow. Certain positions, like lying on the stomach, can help make breathing easier. For severe breathing problems, a child might need a tube inserted into the windpipe (called a tracheostomy). Some babies with TCS have problems with feeding, especially when it interferes with breathing. So they might need a feeding tube into the stomach through the nose.

Unless a child with TCS has breathing or feeding problems, most facial reconstruction surgery is done over a number of years when the child is older. Surgery of the face and jaw can improve appearance, and have a positive effect on a child’s self-esteem and social functioning.

Hearing should be checked at birth and routinely as the child grows. Because the inner ear still works well in most children with TCS, hearing aids that transmit sound through the bone instead of the middle ear can work well. Speech-language therapy is often needed.

Kids with TCS need regular eye exams to check for problems with vision, eye movements, and cornea exposure (because they can’t close their eyelids completely).

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Treacher Collins syndrome?

The following lifestyles and home remedies might help you  and your loved one cope with Treacher Collins syndrome:

  • Offerthe affected person your love and support. How other people act around a child with TCS can have a big impact on the child’s life and self-esteem. Offering love and support will help ensure your child’s emotional well-being.
  • Find a counselor or psychologist.If feelings of self-consciousness keep your child from enjoying social events or other activities, a specialist can help the kid work through these difficult emotions.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 6, 2018 | Last Modified: February 6, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.