Marked by craniofacial deformities, Treacher Collins syndrome is a rare genetic disorder. Some of its symptoms include conductive hearing loss, small lower jaw or micrognathia and downward slanting eyes. In addition, patients may also experience malformed ears, drooping lower eyelids as well as underdeveloped zygoma. In addition to its symptoms, causes, and treatments, there are other interesting things to know about this disease including who discovered Treacher Collins syndrome.
The Discovery of Treacher Collins Syndrome
Who discovered Treacher Collins syndrome? An English surgeon named Edward Treacher Collins discovered this medical condition in 1900. During that time, he was able to describe the essential traits of the disease. He was also an ophthalmologist. One of his widely recognized works was entitled “Researches into the Anatomy and Pathology of the Eye,” which was released in 1896. The prevalence of this condition is one in every 10,000 births.
Additional Facts and Other Highly Interesting Details
Treacher Collins syndrome is caused by TCOF1 gene mutation at chromosome 5q32-q33.1. It can be inherited through an autosomal-dominant pattern. In terms of symptoms, most patients manifest visible signs like prominent nose as well as sunken appearance in the middle part of the face, which is caused mainly by underdeveloped facial bones. It is also possible for patients to experience malocclusion of the teeth and cleft palate.
In severe conditions, patients suffer from displaced tongue due to micrognathia. Because of this, their oropharynx is blocked, the result of which are severe respiratory problems. Another unusual feature of this disease is congenital heart disease. It is very easy to determine patients of this condition because they tend to show highly visible signs such as coloboma, sparse eyelashes and downward-slant eyes. In many cases, patients suffer from microtia, which is a condition wherein the ears are small, absent or formed in an unusual way.
Hearing loss is also very much possible, especially in severe cases of middle ear defects. There are certain medical procedures available that can help improve the condition of patients. For those with cleft palate, surgery is always one of the top options. Meanwhile, they can enhance their hearing with the help of hearing aids. Surgery is also the solution for other craniofacial deformities. To correct notches, the available options are rotational flaps and skin grafts.
Today, more people are starting to know valuable information about this disease, thanks to various media portrayals. In 2005, it was the main feature of the documentary film “UNMASKED: Treacher Collins Syndrome,” which was aired in Discovery Channel.
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