Treacher Collins Syndrome

Children born with Treacher Collins syndrome have one or more facial differences. At Children’s Health℠, our craniofacial surgeons are experts at evaluating and treating syndromes of the head and face. From mild facial differences to severe changes affecting breathing, our highly skilled team can create a custom treatment plan that’s right for your child and family.

What is Treacher Collins Syndrome?

Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The most common symptom is underdeveloped facial bones, which may vary from very mild to severe. A cleft, or hole, may also be present in the palate.

The syndrome may also affect a child’s eyes, their ability to breathe, external ear formation or their hearing. Typically, Treacher Collins syndrome doesn’t impact learning nor limit intellectual development. 

What are the signs and symptoms of Treacher Collins Syndrome?

Symptoms of Treacher-Collins syndrome include:


  • Hearing loss
  • Missing or misshapen external ear structure (anotia, microtia)
  • Missing or misshapen internal ear structure (less common)
  • Small or missing ear canals (atresia)


  • Downward-slanting eyes
  • Flattened or missing cheekbones
  • Misshapen lower eyelids with missing eyelashes
  • Vision loss
  • Lower eyelid notch or cleft of missing lid tissue (lid coloboma)
  • Crossed eyes (strabismus)
  • Narrowed tear ducts (dacryostenosis)


  • Cleft palate (opening in the roof of the mouth)
  • Underdeveloped lower jaw (mandibular hypoplasia or micrognathia)
  • Misaligned teeth (malocclusion)


  • Blocked or narrowed nasal passages (choanal stenosis or atresia)
  • Large nose
  • Sleep Apnea (Respiratory insufficiency)
  • Narrowed throat passages (pharyngeal hypoplasia)

How is Treacher Collins Syndrome diagnosed?

The diagnosis of Treacher Collins syndrome is most often made by a pediatric expert following a thorough history and physical examination. Specific genetic testing or imaging is not required for the diagnosis. The craniofacial team at Children’s Health will guide the type of tests your child may need based on their specific symptoms. These may include: 

What are the causes of Treacher Collins Syndrome?

The exact cause of Treacher-Collins syndrome is unknown but it is understood to be the result of a genetic mutation.

Risk factors

In the United States, approximately 1 in 50,000 people are affected with Treacher Collins syndrome. 

How is Treacher Collins Syndrome treated?

When your child is diagnosed with Treacher Collins syndrome, they will be evaluated by an experienced craniofacial surgeon at Children’s Health to determine the best treatment plan. Our specialized team will take your child from infancy to adulthood, tailoring care to their unique needs.

As issues arise, they will have access every year to: 

Efficient, coordinated treatment is done on one site and may include:

  • Surgery to reconstruct the facial bones
  • Air-way evaluations
  • Hearing assessments
  • Ear reconstruction
  • Speech therapy
  • Cleft palate repair
  • Bone grafting to palate
  • Orthodontics
  • Genetic evaluation

Treacher-Collins Syndrome Doctors and Providers