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Stickler's Syndrome
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Stickler
Syndrome may be the most common tissue disorder in the United States,
possibly affecting 1 in 10,000 persons, yet not many are aware of the
condition, including doctors. This may be due to the fact that only a
fraction of cases are diagnosed as most patients display minor symptoms
and, in other instances, a high rate of misdiagnosis occurs because
symptoms are not correlated to a single cause. In addition,
identification is not always easy since clinical diagnostic criteria
are lacking and patients do not always exhibit all the symptoms
attributed to the syndrome.
Every known type of Stickler syndrome is due to mutations in the genes for collagen, a fibrous protein that is a key component of connective tissue. Stickler syndrome is therefore considered a collagenopathy, specifically of the subtypes II and XI. Three genes have been identified as causing it: COL11A1, COL11A2, and COL2A1. The syndrome is named for a German doctor named Gunnar B. Stickler, who described the condition in a young boy in 1960 at the Mayo Clinic. He published his first description of it in 1965 and then followed it up with another report in 1967. The earliest known case of the disorder, however, is one published in 1953 by German physician B. David. Stickler syndrome is inherited as a dominant trait. Initial symptoms may include a broad, flat, sunken bridge of the nose, which makes the face look flattened. A cleft palate and small jaw may also be present. In addition, sensorineural deafness may develop. Problems with the eyes include near sightedness (myopia), astigmatism, and cataracts, with a substantial risk of retinal detachment. A form of glaucoma called glaucoma simplex may also occur. Bone abnormalities in joints such as the ankles, knees and wrists are usually evident and are a consequence of having hyperextinsible joints resulting in pain and stiffness as the child gets older. Incomplete dislocation of the hips is another frequent occurrence, as is scoliosis, and osteoarthritis typically develops in the third or fourth decade. Even problems of the heart may be present, known as Mitral Valve Prolapse. As is clearly evident from the above outline, Stickler's is a multi-faceted syndrome and not necessarily an easy one to pinpoint and identify. I have collated these facts from various sources to draw attention to the condition and to make people aware that there is much information to be gained on it. A helpful site to visit is Stickler Involve People or SIP for short: http://www.sticklers.org/sip2/ Another valuable resource to check out is the Wikipedia site: http://en.wikipedia.org/wiki/Stickler_syndrome Still more useful sites include the following: http://www.faces-cranio.org/Disord/Stickler.htm and: http://www.geneclinics.org/profiles/stickler/details.html Mario S. Fedele God's Gift - A touching memoir of overcoming insurmountabe odds. http://www.freewebs |
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