Treacher Collins Syndrome

Treacher Collins syndrome is a genetic birth disorder characterized by the premature joining of certain bones of the skull during development, which affects the shape of the head and face.

• Most children with Treacher Collins syndrome are of normal intelligence.
• Common features of this syndrome include:
  • Down-slanting eyes
  • Underdevelopment of or absence of cheekbones
  • Lower jaw is often small
  • Underdeveloped or unusually formed ears
  • Possible cleft palate

• If one parent has Treacher Collins syndrome, there is a 50 percent chance that the child will be born with the disorder.
• Unaffected parents who have one child with Treacher Collins syndrome rarely give birth to a second child with the condition.

• Outer parts of the ears are abnormal or almost completely missing
• Hearing loss
• Very small jaw
• Very large mouth
• Defect in the lower eyelid
• Scalp hair that reaches to the cheeks
• Cleft palate

In addition to the physical characteristics common to the condition, your child may have the following problems:

• Breathing problems
• Feeding difficulties

Some cases of Treacher Collins are the result of an inherited gene. In cases where there is no family history of Treacher Collins syndrome, doctors believe the cause to be a genetic mutation.

Your child's doctor can usually diagnose Treacher Collins syndrome at birth by assessing the signs and symptoms of your baby.

Diagnostic tests that may be performed to confirm the diagnosis include:

• X-ray: a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs on film
• Computerized tomography scan (also called a CT or CAT scan): A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general X-rays.

Your child should be evaluated by members of an experienced, interdisciplinary team.

• No single specialist can manage Crouzon syndrome and its associated problems, as treatment usually involves doctors who specialize in many areas.

Depending on the severity of the disorder, your child may require some or all of the following treatments:

• Surgery to reshape the cheekbones
• Surgery to repair nose and eyelids
• Surgical reconstruction of the ears
• Surgery to improve feeding and/or breathing
• Hearing tests with an audiologist
• Speech therapy
• Orthodontics, to straighten teeth

Children with this syndrome typically grow to become normally functioning adults of normal intelligence.

Careful attention to any hearing problems your child may have will help ensure better performance in school.

The Cleft and Craniofacial Center at Boston Children's Hospital provides a team approach to the evaluation, diagnosis, and treatment of children and adults with congenital or acquired facial deformities. If your child has been diagnosed with Treacher Collins syndrome, our doctors can help. And if you're pregnant and have a family history of Treacher Collins syndrome, you can talk to one of our genetic counselors for advice.