Treacher Collins Syndrome

Treacher Collins Syndrome

AKA: TCS Treacher Collins Syndrome is a genetic, craniofacial birth defect caused by a mutation in the genetic code. TCS can be inherited if either (or both) parents are affected with it. A child can also recieve TCS because of a *Random* genetic mutation during fetal development. Approxamatly one in every ten thousand newborns are diagnosed with Treacher Collins. Possible Symptoms:
depressed cheekbones
malformed ears
absent ears
receding chin
slanted eyes

Quote Note:
"People are scared of what is different - of what they don't understand. They give wide berth to the things and people that they perceive as a threat to them. In a way, this is good; it's a defense mechanism. In another way, it breeds ignorance and heartache. Society tends to shun those that aren't "normal." Society just doesn't understand that below the surface these "different" people are as "normal" as one can get." -Amie, www.treachercollin.org

More Information: www.treachercolling.org

Mandibulofacial dysostosis is a craniofacial deformity also known as Treacher Collins Syndrome/Franceschetti-Klein Syndrome. It is characterized by:

- down-slanting eyes
- notched lower eyelids
- underdevelopment or absence of cheekbones and the side wall and floor of the eye socket
- lower jaw is often small and slanting
- forward hair in the sideburn area
- underdeveloped, malformed and/or prominent ears

Treacher Collins is a single-gene dominant trait, meaning that if you have it, there is a 50% chance of passing it on to your child. However the disease also occurs "spontaneously" in children of unaffected parents as a result of a mutation.

Affected individuals may also have cleft palate, difficulty eating and breathing, misspaced teeth, partial blindness, dry eyes and frequent eye infections, partial deafness, and small or missing thumbs. Mental capacity and lifespan are unaffected. The physical abnormalities can be corrected surgically, and the hearing loss is easily corrected with a hearing aid

Sources:
http://www.faces-cranio.org/Disord/Treacher.htm
http://www.icondata.com/health/pedbase/files/TREACHER.HTM