Treacher Collins Syndrome

In-Depth

What causes Treacher Collinssyndrome?

Some cases of Treacher Collins syndrome 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.

What are the chances of having a child with Treacher Collinssyndrome?

• 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.

What kind of symptoms might my child have?

• 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

What other symptoms could be present?

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

• breathing problems
• feeding difficulties
• hearing loss

Tests

How is Treacher Collinssyndrome 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 is Treacher Collins syndrome treated?

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

• No single specialist can manageCrouzon syndromeand 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 re-shape the cheekbones
• surgery to repair nose and eyelids
• surgical reconstruction of the ears
• 手术来改善喂养和/或呼吸
• hearing tests with an audiologist
• speech therapy
• orthodontics, to straighten teeth

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.