Conditions
Treacher Collins
Treacher Collins Syndrome is a condition that leads to defects of the face. It affects about one in 10,000 babies and is generally hereditary but can also be caused by a gene mutation. The underlying cause of this is a defective protein called treacle. Treacher Collins Syndrome is often diagnosed at birth. Some cases are significantly more severe than others.
There are several characteristic features of Treacher Collins Syndrome. The affected gene controls development of bones in the head and neck, meaning people with Treacher Collins Syndrome may have eyes that slant downwards, a small lower jaw, a very large mouth and underdeveloped cheekbones. Ears are often small, malformed or even missing. This can lead to substantial hearing problems which may impact on learning for children, meaning hearing aids are necessary. Visual problems can also occur, as another symptom is coloboma, which affects the eyelids. Nevertheless, most sufferers have normal levels of intelligence and will lead normal lives.
Since Treacher Collins Syndrome is a genetic condition, it can not be cured. However, reconstructive surgery can be undertaken to build up cheekbones and the jaw. This can be cosmetic but may also assist with breathing difficulties that sometimes arise for people with Treacher Collins Syndrome. It is a good idea to discuss the condition with medical professionals and genetic counsellors.
Comments and Questions
You can share your experiences and thoughts with other Embarrassing Bodies site-users below. Comments & Questions are reviewed by moderators, but if you see anything on the site that worries you, please report it and one of our moderators will look at it as soon as possible.
Please note: Unfortunately Channel 4 cannot respond to individual inquiries. If you have any concerns, you can check out NHS Choices, but ultimately it is always best to check with a health professional.
Important Notice
The information provided on this website (including any NHS Choices medical information) is for use as information or for educational purposes only and is not a substitute for professional medical care by a qualified doctor or other qualified healthcare professional. We do not warrant that any information included within this site will meet your health or medical requirements. This Embarrassing Bodies site does not provide any medical or diagnostic services so you should always check with a health professional if you have any concerns about your health.
If you want to embed our videos in your site, read our embedding T&Cs here
There is I young girl over the road from me with this condition, she had recently started year seven and the other day I asked her how she was getting on and she said fine, and that no one cares that she looks different to other people this made me feel really happy for her because when she was younger if I was at her house with her mum she would come in crying because children in the street bullied her and imitated the way her jaw was because she didn't have a fully developed jaw, I hope other children with treacher collins have the confidence she has and can find friends and lead normal lives :) Xx
Reply to this comment Report this as offensive
this guy is such an inspiration, and he seems to be the happiest out of us all. when i was watching this program, i thought he was amazing, people are cruel in this world, and for him to stand up against them is really inspiring, and it shows what cowards people are who hold prejudice against people who look different, but who is to say that its wrong to look different? especially after watching the other channel 4 program beauty and beast with Andy in it, i felt ashamed that the girl whose life was to look "perfect" could say some really horrible things. i am so happy for him aswell that he has found someone so caring for him, he really deserves it, all the best for the future
Reply to this comment Report this as offensive
I have Treachers too, and i wish i had this guys confidence .Amazing to see someone so in control of what life has dealt. :)
Reply to this comment Report this as offensive
MY COMMENT IS TO THE MOST AMAZING MAN IN YOUR PROGRAM WITH THE TREACHER COLLINS SYNDROME, WOW OMG WHAT AN AMAZING INSPIRATION THAT GENTELMAN WAS IN TONIGHT'S PROGRAM. & I THINK HE CAN & DOES RAISE THE BAR & NO ONE CAN & EVER WILL REACH UP WHERE HE IS, HE IS AMAZING & I WOULD LOVE IF HE'D BE ABLE TO GET IN CONTACT WITH ME SOMEHOW I WOULD LOVE THAT SO MUCH. HIS ATTITUDE IS TOO FANTASTIC FOR ANY OF MY WORDS I COULD EVER SAY, HE IS IN MY HEART FOREVER & EVER. KAT XXXX
Reply to this comment Report this as offensive
It's really hard to read all caps like that. Just sayin' and besides it's considered 'yelling' and rude as well.
In reply to PAULINE Report this as offensive