Treacher Collins Syndrome

Treacher Collins Syndrome

Treacher Collins syndrome is a rare, inherited genetic disorder in which the cheekbones and jawbone are underdeveloped. The condition is also known as mandibulofacial dysostosis. Children with Treacher Collins have very small cheekbones and jaws, and notches in their lower eyelids; their ears are frequently abnormally shaped and part of the outer ear is absent. Most children with Treacher Collins are of normal intelligence.

If your child has been born with Treacher Collins syndrome, one or both of the parents most likely have or have a family member with the syndrome. If you consulted a geneticist before getting pregnant, having a child with the syndrome can still feel overwhelming. As parents, we want our children to experience childhood without the complications any birth defect may pose. 

Working with our internationally recognized team of surgeons and interdisciplinary specialists means that your child will receive among the highest-quality, comprehensive care and treatment available. Each team member is dedicated to helping children with birth defects be as happy and healthy as possible, so that they, too, can experience the joys of childhood.

Causes of Treacher Collins Syndrome

Treacher Collins is autosomal dominant, which means there is a 50 percent chance of inheritance even if only one parent has the syndrome. In some instances, the condition in the parent can be so mild that only when a child with a more severe case of Treacher Collins is born does the parent find out they have the syndrome. 

If your child has been born with Treacher Collins syndrome and there is no family history of the syndrome, rest assured that no actions or activities of the mother during the pregnancy have caused this condition. It is possible for the parents to pass on two healthy genes and still have a new genetic mutation occur in the first trimester of pregnancy. Treacher Collins occurs in 1 out of 10,000 births. 

It is natural to wonder if you will have another child with Treacher Collins. 
If one parent carries the gene, there is a 50 percent chance of having another child with Treacher Collins syndrome. If neither parent carries the gene, the chance of having another child with the syndrome is negligible. 

It is also natural to wonder if your child will have children with Treacher Collins.
 As an autosomal dominant condition, Treacher Collins has a 50 percent chance of occurring in your child’s children.

Features of Treacher Collins Syndrome

Your child may have trouble breathing. Because your child’s jaw is underdeveloped, his or her tongue is positioned farther back toward the throat, which makes the airway smaller. The breathing problem can pose a risk when the child has a cold, respiratory infection, or if he develops sleep apnea. If your child has a severe case of Treacher Collins, sleep apnea can interfere with your child’s mental development. He or she may require a tracheotomy early in life to assist with breathing.

Your child may also experience hearing loss. Most children with Treacher Collins can experience a 40 percent hearing loss in each ear. Some children are candidates for inner ear surgery to build an eardrum, while others will be candidates for hearing-aid implants. It is important to treat hearing issues before the age of one to minimize speech development issues. 

A small percentage of children have issues with their hands. The most common problem is small or absent thumbs.

Other characteristics of Treacher Collins include:
  • Down-slanting eyes
  • Underdevelopment of or absence of cheekbones
  • Lower jaw is often small 
  • Underdeveloped or unusually formed ears 
  • Possible cleft palate 
  • Difficulty feeding
  • Trouble gaining weight 
This list should be used as a guideline. Not every symptom is included. If your child has one or more of these symptoms, it does not mean that he or she has Treacher Collins syndrome. If you are concerned that your child might have Treacher Collins syndrome, please make an appointment with your child's doctor.

Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development. 

Treatments for Treacher Collins Syndrome

Depending on the severity of Treacher Collins, your child may need more than one surgical treatment. Your child will be cared for by leading-edge surgeons in the country who have special interests in techniques and research for craniofacial growth and development, as well as cosmetic surgery and quality of life issues related to birth defects and trauma.

During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
  • Simulate the outcome of proposed surgical plans and adjust any discrepancies before surgery
  • Follow and monitor your child’s condition during the post-surgical healing process
  • Monitor your child’s long-term development
Some treatments might include:
  • Eyes: surgery to correct the notch or sagging on the eyes
  • Ears: surgery to improve the aesthetic appearance of the ears
  • Hearing: hearing tests and hearing aids to improve hearing and speech development
  • Hands: surgery to improve hand function
  • Jaw: treatments to lengthen the jaw
  • Cleft palate: surgery to repair cleft palate
  • Cheekbones: surgery to rebuild cheekbones
The age at which surgical treatment begins will vary. Surgery to rebuild the cheekbones might begin before the age of five, while ear reconstruction might begin around age six.