What is Stickler-Syndrome
Stickler Syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. It was first studied and characte...
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Hello my friends! No,I haven't dropped off the...
seeking2 Oct 25, 2009
Sunday, October 25, 2009
Hello my friends! No,I haven't dropped off the face of the earth. lol Just lots and lots going on,not enough time to get everything done,so sorry for the lack of participation. We went to a nurogolist last week because of hubby's brain bleeds. In the emergency room they kept asking if he had an injury to his head(which he had not). That is the most common cause for brain bleeds. Even in t...
3 Comments -
Last week my youngest grandaughter was diagonoised...
seeking2 Sep 22, 2009
Tuesday, September 22, 2009
Last week my youngest grandaughter was diagonoised with "Treacher Collins Syndrome". It is a generic disorder. She is 12 years old. I've got a lot of reasearch to do on the web. Also,if you will,remember her in prayer also. Thank you my prayer partners.3 Comments -
my son feels like an outcast he actually opened up...
shannon1979 May 06, 2009
Wednesday, May 6, 2009 |
my son feels like an outcast he actually opened up about his vision struggles it just kills me ,and theres nothing i can do about it
1 Recommendation -
Today my 2year old daughter and i just found out t...
christie1979 May 05, 2009
Tuesday, May 5, 2009 |
Today my 2year old daughter and i just found out that we both have stickler syndrome. wow! what a day at the genetics office. i have gone 29 years without knowing the cause of all my eye problems. my biggest fear seams to be coming true and now i'm stuck and don't know what to do. i'm beginning to go blind and scared for me and my daughter both, she is way stronger than me and i am so...1 Recommendation1 Comment -
Well my friends,it seems that I have finally gotte...
seeking2 Mar 02, 2009
Monday, March 2, 2009
Well my friends,it seems that I have finally gotten the message that I was dreading. Someone messaged me that in fact....Jacs56 has passed. My heart is broken,I dearly loved this lady. I am sorry for any confusion I created,but I didn't know we had lost this wonderful human being. She will always and forever be in my heart. It hurts so much. I can't even imanage how her husband and family...1 Comment -
We've seen the passing of another year. ...
seeking2 Dec 31, 2008
Wednesday, December 31, 2008
We've seen the passing of another year. For many it's been filled with pain and tears. We've seen our loved ones in their decline. We've had to accept that they won't be fiine. Some of us had to say goodbye,to a long time loved one,and we've all cried. But there has been times in this last year, Certain events have brought us c... -
My eye is hurting so bad still but nobody knows wh...
Nediva Nov 20, 2008
Thursday, November 20, 2008
My eye is hurting so bad still but nobody knows why. I am worried as to what it might be and the pain is so bad I am throwing up all the time. I have lost twenty pounds. The pain in my joints has worsened and I think it might be becuase of my pain in my eye. I have a cataract forming in my left eye and it has caused my vision to worsen noticibly for me anyways
I was diagnosed with Stickler-... -
Just letting everyone know tha wyndedaze has start...
seeking2 Oct 13, 2008
Monday, October 13, 2008
Just letting everyone know tha wyndedaze has started a support group for CAREGIVERS OF CIRRHOSIS!!! O.K. We asked for it..Let's get it started!! If you want to,for those whoo know me,check out "My Groups". I've already joined,but we need more to converse,and get this started in a big way! Thank you wyndedaze!!!!
Sunday, October 25, 2009
Hello my friends! No,I haven't dropped off the face of the earth. lol Just lots and lots going on,not enough time to get everything done,so sorry...
3 Comments
Stickler Syndrome Information
Stickler Syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965.[1] Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have almost no signs and symptoms; others have all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.
A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to frequent ear infections and swallowing difficulties.
Many people with Stickler syndrome are very nearsighted (described as having high myopia) because of the shape of the eye. People with eye involvement are prone to increased pressure within the eye (glaucoma) and tearing of the lining of the eye (retinal detachment). The jelly-like substance within the eye (the vitreous) has a distinctive appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. The type of Stickler syndrome associated with the COL11A2 gene does not affect the eye.
Another sign of Stickler syndrome is mild to severe hearing loss that, for some people, may be progressive. The joints of affected children and young adults may be very flexible (hypermobile). Arthritis often appears at an early age and worsens as a person gets older. Learning difficulties can also occur because of hearing and sight impairments.
See more Stickler Syndrome Information.
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