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#1
Just wanted to do a survey to see how many people have actually heard of this, know what it is etc. so please be honest and don't google it.

Also if you have heard of it what are you're thoughts etc.?


This is research for my blog.

Edit:

Ok for those wondering yes I have this condition, it is a condition where bones in the face do not develop properly in the womb. I guess I have a mild-medium case of it in that it is noticeable and I am definitely affected by it but I don't need a trach and I am nowhere near the level of people like Juliana Whetmore.

Copied directly from my blog (not sure whether or not to put a link yet)

So what is Treacher Collins Syndrome?
This is the best summary that I have found so far, I have seen it posted on several sites but here is the exact link I got it from:
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002624/

Causes, incidence, and risk factors

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). More than half of all cases are thought to be due to new gene changes (mutations) because there is no family history of the disease.
This condition may vary in severity from generation to generation and from person to person.
Symptoms

Outer part of the ears are abnormal or almost completely missing
Hearing loss
Very small jaw (micrognathia)
Very large mouth
Defect in the lower eyelid (coloboma)
Scalp hair that reaches to the cheeks
Cleft palate
Signs and tests

The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
Abnormal eye shape
Flat cheekbones
Clefts in the face
Small jaw
Low-set ears
Abnormally formed ears
Abnormal ear canal
Hearing loss
Defects in the eye (coloboma that extends into the lower lid)
Decreased eyelashes on the lower eyelid
Genetic tests can be done to look for mutations in the TCS1 gene.
Treatment

Treatment involves testing for and treating any hearing loss so that a child can perform at a normal level in school. Plastic surgery can treat the receding chin and other defects.
Support Groups

Treacher Collins Foundation -- www.treachercollinsfnd.org
Expectations (prognosis)

Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.
Complications

Feeding difficulty
Speaking difficulty
Communication problems
Vision problems

As stated above it can vary a lot from person to person, for example some people who are more severely affected than myself may need a trach in order to breathe properly. And some of the people who visit this blog may have seen the documentary of Juliana Wetmore known as the girl born without a face who has the most severe TCS I have come across.
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Last edited by demitriv at Nov 30, 2011,
#3
Nope.

Do you know what Williams Syndrome is? If you are a musician, you should.
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#4
Can't say I ever have
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#7
It's when you aren't a high enough level to make it to Treacher's Landing without dieing a thousand times?
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#8
Whoa lot of replies.

That's all I'll say for now keep posting please.
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#9
i've heard of it, no idea what it is.
There's no such thing; there never was. Where I am going you cannot follow me now.
#10
Never heard of it. Now I'm gonna go google it.
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#11
Ok but please do not post what it is on this thread please.
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#12
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Never heard of it.


I'm surprised you didn't pull up on TS' apparent Asperger's.
yo.

I BELIEVE
#14
Quote by Teh Traineez0rz
I'm surprised you didn't pull up on TS' apparent Asperger's.



Pardon?
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#15
I'd heard of it. When I looked it up I realised I knew what it was.
#16
Quote by Teh Traineez0rz
I'm surprised you didn't pull up on TS' apparent Asperger's.

He didn't call me out for having bad jokes
#17
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It's when you aren't a high enough level to make it to Treacher's Landing without dieing a thousand times?


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#18
Sounds familiar, but I can't put my finger on what it actually is.
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#19
nope.
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#20
Spoonerism that shit and you have a hilariously appropriate disorder name.

And no, never heard of it.
#21
No idea.
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#22
Very interesting, will try and get as many responses as possible before posting more details.
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#25
I know what it is. Some guy on that Embarrassing Illnesses on Channel 4 had it.

Seeing photos puts me off ever having children.
#26
I've heard of it, and seen it. It makes me feel... eehhhh. I really is pretty sad tho. I couldn't imagine how I'd feel if my kid ends up having it.
And to the general public, don't google image it. It will never leave your brain
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#28
I've heard of it. There was a documentary on BBC3 about a guy with it.
hello
#29
Ah now some more in depth responses, will wait a bit more to see what others say.
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#33
I've heard the name because there's a Screaming Females song called it, but I know nothing about it.
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#34
Never heard of it.
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#35
Never heard of it.
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#36
edited; yeah I kinda know what it is, but not too familiar with it. I think it'd be unfortunate to have but I don't know how serious it is or if it's manageable or not.
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Last edited by guitarxo at Nov 30, 2011,
#37
Never heard of it.
Just a sub-par guitar player..

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#38
Isn't this the thing that causes that thing on people? You know?
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