Treacher Collins Syndrome

What is Treacher Collins Syndrome?

Treacher Collins Syndrome is the name given to a birth defect which may affect the size and shape of the ears, eyelids, cheek bones, and upper and lower jaws.  The extent of facial deformity varies from one affected individual to another.  “Syndrome” refers to the group of deformities which characterize affected individuals.  Another used medical name for this syndrome is “mandibulofacial dysostosis.”

What causes it?

This syndrome is caused by an abnormality in the genes. If both parents are normal, that is showing no signs of the syndrome themselves, this abnormality is the result of a change in the genetic material at the time of conception.  The exact cause of this change is not known.  If one parent is affected, the abnormal gene is then known to have been contributed by that parent.

 Will my child be deaf?

• The term “deaf” applies only to very severe hearing losses in which the nerves for hearing, in the ear or the brain, do not function properly. The hearing loss in Treacher   Collins syndrome is due to abnormalities in the structures of the outer and middle ear which conduct sound to the nerve endings in the inner ear.
• The loss in Treacher Collins syndrome is usually termed “conductive” and in the majority of children it is not of sufficient severity to be termed “deafness.” However, any degree of hearing loss may affect the development of speech and language ability to succeed in school.

What kinds of problems can I expect?

• Treacher Collins syndrome varies in severity from patient to patient. In fact, some cases are so mild that they are never recognized unless they are seen by specialists experienced in making such a diagnosis. In other children, the physical abnormalities of the face and ears are much more obvious and functional problems may develop.
• Both the oral cavity and the air passage tend to be small in persons who have this syndrome.  This may produce problems for the affected infant with breathing and feeding. You should be on the alert for such problems.  If your infant has difficulty breathing or feeding, or has weight loss or poor weight gain, discuss your observations and concerns with your child’s primary care provider. Some children who have severe breathing difficulties require an operation to improve breathing and/or feeding.
• Cleft palate is a condition frequently associated with this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider can assist you with the management of feeding problems. 
• The next concern after breathing and feeding is hearing. The hearing loss in Treacher Collins syndrome is usually bilateral (meaning that both ears are affected) and, while it is not severe enough to be termed “deafness,” it is severe enough to affect the ability to hear the human voice.  Hearing levels can and should be measured. Depending upon the results of the testing, your child may be fitted with a hearing aid to restore his or her access to the world of sound. An early childhood program of speech and language therapy may also be recommended.  The fact that a hearing loss is present does not mean that your child will be dependent upon sign language. The great majority of children with this syndrome do learn to talk.  Particularly in the severely affected child, the size and position of various structures inside the mouth (e.g. the relationship of the upper and lower teeth) may affect the ability to learn certain speech sounds.
• Depending on the how deficient the midface skeleton is, the eyelids may be affected and cause problems with adequate eye closure.

What kind of treatment is available for Treacher Collins patients?

• Your child may need a hearing aid, and this can be determined in the first few months of life. 
• An early childhood program for speech and language stimulation may be recommended.
• If a cleft palate is present, the craniofacial team will advise you on the optimum timing for surgical closure of the cleft.
• Reconstructive surgery is available to improve the appearance of the face.  The craniofacial center will advise you on what to expect from such surgery and on optimum timing. Since not all children are affected to the same degree, both the necessity and the outcome of reconstructive surgery vary from child to child.

What is the prognosis for those with Treacher Collins?

With treatment through a multidisciplinary craniofacial team, many of the needs of the person can be addressed. Given the range of severity that exists with this disorder, the prognosis can also range.