Treacher Collins Syndrome

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What is Treacher Collins syndrome?

Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.

How common is Treacher Collins syndrome?

This condition affects an estimated 1 in 50,000 people.

What genes are related to Treacher Collins syndrome?

Mutations in the TCOF1 gene cause Treacher Collins syndrome.

The TCOF1 gene provides instructions for making a protein called treacle. Although researchers have not determined the precise function of this protein, they believe that it plays a critical role before birth in the development of bones and other tissues in the face. Mutations in the TCOF1 gene reduce the amount of treacle that is produced in cells. Researchers believe that a loss of this protein signals cells that are important for the development of facial bones to self-destruct (undergo apoptosis). This abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome.

How do people inherit Treacher Collins syndrome?

This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene. These cases occur in people with no history of the disorder in their family. In the remaining cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.

Source: National Institutes of Health

Researchers from Hokkaido University report recent findings in surgery

"Therefore, we reasoned that objective assessment of the clinical features and their severity in TCS is necessary to plan the treatment and to evaluate the outcome. We hereby propose a new grading system for Treacher Collins syndrome (TCS). Since 1978, 16 patients have been diagnosed with TCS. Eleven out of the 16 TCS patients, for whom we were able to estimate the severity of the clinical features in each region, and to make an objective assessment of the therapeutic outcomes, were selected. By allocating points according to the degree of severity of the clinical features in each region, then summing them up and categorizing them, we classified the overall clinical features into 3 grades. The severity increases from grades I to III. In summary, there were 3 patients of grade I, 4 patients of grade II and 4 patients of grade III. Distinctive differences regarding the degree of severity of the clinical features were clearly observed between each grade. We propose a new TCS grading system and applied it to 11 patients," wrote T. Hayashi and colleagues, Hokkaido University.

The researchers concluded: "We believe that this system may be useful for planning treatment and to evaluate the outcome in TCS patients."

Hayashi and colleagues published their study in the Journal of Craniofacial Surgery (New grading system for patients with treacher Collins syndrome. Journal of Craniofacial Surgery, 2007;18(1):113-9).

For additional information, contact T. Hayashi, Hokkaido University Graduate School of Medicine, Dept. of Plastic and Reconstructive Surgery, Sapporo, Japan.

Publisher contact information for the Journal of Craniofacial Surgery is: Lippincott Williams & Wilkins, 530 Walnut St., Philadelphia, PA 19106-3621, USA.

Keywords: Japan, Sapporo, Surgery.

This article was prepared by Surgery Litigation & Law Week editors from staff and other reports. Copyright 2007, Surgery Litigation & Law Week via NewsRx.com.