Stickler Syndrome: Symptoms and Diagnosis

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Stickler's Syndrome

Stickler's Syndrome is a connective tissue disorder that causes problems with vision, hearing, bones, and joints.

Stickler's Syndrome was named after Dr. Gunnar B. Stickler. In 1960, a 12 year old boy was analyzed at Mayo Foundation in Minnesota. The boy had expansions of quite a few of the joints, he was also very short sighted. His mother also had a problem, she was blind. Dr. Stickler founded that other members of this family had similar symptoms. This made Stickler very determined, so he did a five year study on this family, to figure out this condition. The conclusions were published in June of 1965. Gunnar named this condition Hereditary Progressive Artho-Ophthalmology, now known as Stickler's Syndrome(“Stickler's Syndrome”).Stickler's Syndrome was said to be the most prevalent syndrome in the United States and in Europe(“About Stickler's Syndrome”). 1 in 10,000 people/ newborns could be affected with Stickler's Syndrome. Most medical experts think as many as 3 in 10,000 are affected, but a bountiful of studies need to be identified to prove this.

The variable, phenotypic, is the expression of Stickler's Syndrome(Verma). All of the variables of phenotypic of Stickler's Syndrome are: inter familial variability, and families. Inter familial variability is explained by locus and allelic heterogeneity(Verma). This syndrome can reform itself differently within families(Wilson).In cases, if one may have Stickler's Syndrome, and your spouse or partner may not, your child will have a 50% probability of getting this condition. Almost never, people that have Stickler's Syndrome may not even inherit a mutant gene. If that happens, Stickler's Syndrome results from an accidental mutation in a few genes. Researchers have found four different types of mutations: COL2A1, COL9A1, COL11A1, and COL11A2 genes that cause Stickler. Genes are portions of DNA that are for all of the characteristics: eye color, and even propnsity to get high...
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