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This one is about: Stickler's Overview
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I was given some information from a group called, "Sticklers Involved People" (SIP) concerning Sticklers Syndrome. Since it is a condition often associated with Pierre Robin (but not ALWAYS associated with PR) I thought it would be good to share it here. If your child has Pierre Robin, don't let this scare you. But if your child has Pierre Robin and any of this rings true, go to your doctor and ask them to screen for Sticklers. (In fact, every PR-affected child should be screened for Sticklers.)
From the brochure, "Stickler Syndrome: What you Need to Know First!"
"Stickler Syndrome is a genetic disorder which affects connective tissues, including the joints, eyes, palate, heart and hearing. This disorder is characterized by possible vision problems, hearing loss, early arthritis, cleft palate, and heart murmurs.
"Because Stickler Syndrome is different in each person, it is very difficult to diagnose. All parts of the body do not have to be affected for the diagnosis of Stickler Syndrome to be given.
"Recent research shows Stickler Syndrome to affect the COL2A1 gene mapped to chromosome 12 and the COL11A2 gene mapped to chromosome 6. Further case and genetic studies are continuing.
"There are several problems that may occur to Stickler Syndrome patients. Common vision problems include near-sightedness, astigmatism and cataracts. More serious problems include vitreous gell (which fills the eye)
deteriorating, the retina deteriorating or detaching, and glaucoma.
"Hearing loss can affect either the middle or inner ear. It is more common in older patients.
"Facial concerns include Pierre-Robin Syndrome, small jaw or palate abnormalities. Faces may appear to be flat.
"Premature osteoarthritis, reduced tension of the muscles, spinal abnormalities, loose joints and enlarged bone endings (seen by X-ray) are skeletal problems that can be present.
"Mitrol valve prolapse, a heart condition, should be tested for.
"Stickler Syndrome is progressive, and inherited, so we need to be aware of all Stickler Syndrome possibilities."
If anyone wants to find out more about Sticklers Syndrome, contact Bill or Pat Houchin, 53 Angelina, August, KS, 67010 or call 1-316-775-2993.
They also sent me another brochure titled, "Sticklers Syndrome: What your Doctor Needs to know", in which they list 57 different markers for Sticklers in the following areas: Auditory, Cardiovascular, Ocular, Musculoskeletal, and orafacial.
And a follow-up question by a parent:
>Just a quick question about your letter on Sticklers. My daughter had
>sticklers ruled out by an eye examine. I thought this was a definitive
>way of ruling out Sticklers. Does this mean that there may be other
>"tests" we should consult?
I was led to believe last year when I attended a conference on the subject that there is one eye exam that can rule out Sticklers, that the eye exam used to be given every year, but they discovered that it was a once-for-all sort of deal. Now the folks at SIP tell me that that is not so, that the eye exam should be done each year and that the exam can be negative and yet the child still has Sticklers. Because of the degenerative nature of Sticklers,
I advise that a parent choose to err on the cautious side and get it definitively checked. You may want to talk with the people at SIP to find out if there are in fact definitive tests.
There are a lot of people out there - professional people who should know - who are still saying that one negative eye test is enough to rule out Sticklers.