Tuesday, June 26, 2012

Name that Disease #24

Can you name this disease?

Image is from Flickr.com under a Creative Commons license

This boy has Treacher Collins syndrome, a condition which causes anywhere from mild to severe facial deformities. Common characteristics include reduced or absent ears and a sunken appearance to the face due to reduction of the bones in the cheeks and chin. Other traits may include cleft lip/cleft palate, eye malformation, and abnormal or missing ear canals. Deafness is not uncommon, partly thanks to ear canal issues. Bone-conductive hearing aids are commonly used in patients with this syndrome as, usually, the inner ear is perfectly intact and capable of detecting sound. Other treatments include corrective surgeries, some of which may be vital to health depending on the severity of the condition. Though the deformities can be quite severe, people with this condition should be completely normal in other respects such as intelligence.

Treacher Collins is commonly a result of mutations, of which there are many that have been found. The mutations seem to be important to early bone development of the face. Though the majority of cases are due to mutation, it can also be inherited from parents and, depending on the mutation involved, may be dominant or recessive.

I have met a man (a Biologist of some renown) with this syndrome and, according to him, corrective surgeries are very common, even in those with mild forms. His own surgery history included transplantation of a rib to give him a more prominent chin.

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