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Treacher Collins Syndrome

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Updated October 03, 2011

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Treacher Collins syndrome is a rare disorder, occurring only once in every 50,000 live births. Hearing loss is just one of the many symptoms of Treacher Collins.

Cause of Treacher Collins

Treacher Collins is known to be hereditary and is a craniofacial disorder caused by a defective protein called treacle. The gene for this protein is on chromosome 5. However, the American Speech-Language-Hearing Association noted that in 60% of cases, there is no family history of the syndrome. This means it may be a new genetic mutation in the majority of cases.

It has been found that mutations in the TCOF1 gene on chromosome 5 cause Treacher Collins. TCOF1 is short for "Treacher Collins-Franceschetti syndrome 1." That gene controls the production of the aforementioned treacle. Treacle is thought to have a major role in the development of the facial bones. Approximately 150 mutations in this gene have been identified so far.

In addition, the genetic mutation is a dominant mutation. This means that only one parent needs to have the genetic mutation for a child to be born with this syndrome. It is common for the parent themselves to have Treacher Collins.

Symptoms of Treacher Collins

Treacher Collins is usually apparent at birth. Symptoms can range from very mild to severe. A baby with Treacher Collins may have a receding chin and a small jaw. (The small jaw is also known as micrognathia.) The outer part of the ears may be malformed or largely missing. Microtia, a condition in which there may not be an ear canal present, is common.

Additional symptoms include a defect on the lower eyelid (coloboma), a wide mouth, a cleft palate (an opening in the roof of the mouth) or missing/flat cheekbones. If the underdevelopment of the facial bones is severe enough, there can be dangerous respiratory (breathing) problems. If there are enough problems with the eyes, vision can be affected. Intelligence is normal, and plastic surgery can treat at least some of the physical symptoms such as the chin.

Hearing Loss in Treacher Collins

The hearing loss associated with this condition is usually a conductive hearing loss. It tends to be bilateral, with sensorineural hearing loss rarely present. Approximately half of those who are born with Treacher Collins will have a hearing loss.

Treatment of Hearing Loss

The outer ear malformations associated with Treacher Collins can make it difficult for these children to use hearing aids. One solution is to use a bone-anchored hearing aid, which is attached to an implanted titanium screw. One example of a bone-anchored hearing aid is the Baha from the company Cochlear.

Social and Speaking Challenges

Children with Treacher Collins can face challenges in speaking because the facial malformations hinder speech and language development. In addition, these facial malformations can also impact eating and drinking. Socially, people with Treacher Collins may experience more negative attitudes from other people. Other children and teenagers can be uncomfortable around a child with Treacher Collins, avoiding the child or bullying him or her.

Support for Families and Individuals

Fortunately, there are social network sources of support for people and families with Treacher Collins. These sources include a Yahoo Groups support group, Treacher Collins. In addition, Facebook has an open group, Treacher Collins Syndrome.

Sources:

Badon, Linda C. Ph.D., CCC-SLP, Shalini Arehole, Ph.D., CCC-A, and Brittany Delco, McNair Scholar. Treacher Collins Syndrome, Social Problems, & Peer Victimization: The Role of SLP. American Speech-Language-Hearing Association. http://www.asha.org/Events/convention/handouts/2010/2304-Badon-Linda.htm. Accessed September 2011.

Communication Facts: Special Populations: Craniofacial Syndromes. American Speech-Language-Hearing Association. http://www.asha.org/Research/reports/craniofacial/. Accessed September 2011.

TCOF1. National Library of Medicine. http://ghr.nlm.nih.gov/gene/TCOF1. Accessed September 2011.

Treacher-Collins Syndrome. PubMed Health. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002624/. Accessed September 2011.

Treacher Collins Syndrome. Genetic and Rare Diseases Information Center. http://rarediseases.info.nih.gov/GARD/QnASelected.aspx?diseaseID=9124. Accessed September 2011.

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