Pediatric Health

Home |Health Centers |Pediatric Health |Birth & Genetic Disorders

Treacher Collins Syndrome

Also called: Franceschetti-Zwalen-Klein Syndrome, Treacher Collins-Franceschetti Syndrome 1, Mandibulofacial Dysostosis, TCOF 1, MFD

- Summary
- About Treacher Collins syndrome
- Potential causes
- Signs and symptoms
- Diagnosis methods
- Treatment options
- Questions for your doctor

Reviewed By:
Rafiu Ariganjoye, M.D., MBA, FAAP

Test Your Knowledge
-	Growth & Development Quiz
Quizzes A-Z

Diagnosis methods

Early diagnosis of Treacher Collins syndrome – well before a child’s first birthday – is essential. Infants with physical signs or complications of the syndrome (e.g., a cleft palate, airway problems) often have difficulty breathing and/or feeding. Hearing loss associated with Treacher Collins syndrome can lead to language and other developmental difficulties. Parents who notice signs of the syndrome in their child should consult their child’s physician.

A physician will begin by performing a complete physical examination and compiling a thorough medical history of the child and parents. Genetic testing may be ordered to identify the specific gene mutation that causes the syndrome.

A hearing test will be performed to identify the extent of any hearing damage associated with the syndrome. Children with jaws that are smaller than normal and restricted airways may also be tested for sleep apnea, a condition in which breathing temporarily ceases during sleep.

Treatment options

A group of specialists known as a craniofacial team often will work together to create a treatment plan for patients with Treacher Collins syndrome. These specialists work to adjust facial features so a patient’s appearance is as close to normal as possible.

In some cases, surgery may be necessary to repair a cleft palate, or to improve a child’s ability to breathe or eat. Reconstructive surgery can also be used to enhance a child’s appearance. This may include surgery to:

Correct a beak-like nose
Correct and augment an undeveloped jaw and/or chin
Reconstruct the ears
Repair cheekbones
Repair eyelid notches
Repair the sidewall and floor of the eye socket

Surgeries for the differing deformities may be scheduled at different times during childhood. For example, surgery to fix the cheekbones is usually performed before a child is 5, and reconstruction of the ears begins around age 6. Surgeries to lengthen the jaw may occur several times during a child's school years.

Various treatments may be suggested for a child’s hearing impairment. This can include everything from hearing aids to speech and language therapy.

Ointments may be prescribed for children with Treacher Collins syndrome who have dry eyes, to help prevent infections. Psychotherapy may also help children deal with emotional problems as a result of their condition.

Prev Page | page 5 of 6 | Next Page

Review Date: 12-26-2007