Treacher-Collins syndrome is an inherited birth defect that affects approximately 1 out of every 50,000 people.
The disorder affects the bones and tissue growth in the face. Because the severity vary from one case to another, some affected patients will have unnoticeable or slightly noticeable abnormalities and others will have severe malformations.
Common characteristics include underdeveloped cheek bones, small jaw and chin, cleft palate, minimal eyelashes, coloboma, vision loss, abnormalities in the ears, hearing loss and respiratory complications from restricted air flow. Because the cheek area lacks proper bone growth, it is common for the eyes to become droopy and slant downwards.
Treatment includes monitoring of hearing loss and vision complications, as well as plastic surgery for facial abnormalities.
select * from birthdefectscomments where id="389933918" Comments 1 to 4 of about 4.
1431 days ago.
Im not sure how mild or severe your friends child is, but I never had any plastic surgery, I have seen many specialists in my childhood, but i chose not to worry about having any done. I do sometimes wonder about maybe having my jaw moved foward a bit but still havn't made up my mind. Two years ago when I was 26 I had one of my ears operated on as I have mild hearing loss in both ears. But I can say that i had a great life and a life like any of my other friends (except for gong to visit so many specialists) I am now engaged and preg with our first baby.. Even with TCS your life can be just like everyone elses.
1431 days ago.
Hi I am 10 weeks pregnant and I have TCS. My grandmother has it, which the gene carried through my father (but he shows no symptoms and was unaware he even carried the gene until I was born!) So It does run through my family. I am an only child due to my parents worried about having another tcs child (due costs and living 6 hours drive away from the hospitals). My Father is the only one out of 3 children who carried the gene.
So now that Im pregnant I find it hard to be so excited incase my child will have the TCS. It is only very mild in our family (my grandmother and I both have hearing loss, my father doesn't) but i have been told my child could have it severly even though its only been mild in our family. Or we could be very lucky and our child not carry the gene at all. I am booked in next week to have a CVS then results will be sent away and examined and i will have an answer. They can tell if the bub carries the gene but cannot say how severe or mild the TCS will be. So it could carry the gene but have no symptoms just like my father. just have to wait and see I guess.
1449 days ago.
My niece was born with TCS. She is 16 months old now and absolutely beautiful. She rarely cries. Not even after her surgeries which she has already under went a few. However now my husband and I are expecting. Although I have another child from a previous marriage I am unsure if our son could be born with TCS. Some days I don't worry at all but others I definately get nervous. Anyone have any thoughts?
1591 days ago.
I just found out this morning a friend of mine's baby was born last week with Treacher Collins. I'm so glad I've seen several Discover Channel type shows on the syndrome. She'll have years of plastic surgery but her brain and the rest of her body are in terrific shape. If anyone has any information you think would be good for her to know please leave a message.
Leave a message Become a member to be able to comment.
(Sign up) It's all free, no email is required.