How is Treacher Collins syndrome diagnosed?
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.
How do we treat Treacher Collins syndrome?
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
How we care for Treacher Collins syndrome
The Cleft and Craniofacial Program 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.
What's the outlook for my child?
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.
