Treacher Collins syndrome is a genetic disorder that causes defects in the cranium and facial features. It occurs in around 1 out of 10,000 births and therefore, it is considered a rare condition.
This disorder affects and size and shape of the ears, eyelids, cheek bones, upper jaw and lower jaw. The severity of the disorder varies from person to person and most people affected by this syndrome have normal intelligence.
The syndrome is name after E. Treacher Collins, who was the first to describe it in 1900 after observing two people with similar abnormalities of the facial features.
If a parent has Treacher Collins syndrome, then a child has 50 percent chances of inheriting the disorder. The disorder is equally present in males and females. As mentioned earlier, the disorder gives the person characteristic features that include the following:
- Eyes slanting downwards
- Notched lower eyelids
- 40 percent of cases have conductive hearing loss
- Absent or underdeveloped cheek bones
- Absent or underdeveloped side wall and floor of the eye socket
- Small and slanting lower jaw
- Cleft lip or palate
- Wide mouth
- Underdeveloped and/or prominent ears, which can be malformed at times
- Eye lashes are either missing or grow irregularly
- Respiratory problems
With all these problems present, people often want to know the life expectancy of Treacher Collins syndrome. The good news is that the disorder is not life threatening and the life expectancy of Treacher Collins syndrome patient is nearly same as that of an average person. However, it should be noted that infants can die due to malformed jaw and respiratory problems.
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