Essay On Stickler Syndrome

Stickler Syndrome is a rare disease due to several mutations in certain types of genes that are involved in the formation of collagen. Collagen is an important building block of connective tissues, which is mostly effected throughout the body by Stickler Syndrome. This disease affects both male and female; the rate is at approximately one to three in every ten thousand births and one within every seventy-five hundred births. Investigators of this disease believe that Stickler Syndrome is very under-diagnosed. Although it is difficult to diagnose individuals with this disease in the general population, Stickler Syndrome is one of the most common connective-tissue diseases in the United States. Most cases of Stickler Syndrome are due to a familial gene which is inherited as an autosomal dominant trait. The effects caused by Stickler Syndrome are due to Type II pro-collagen (COL2A1) gene but other effected genes have been identified as well. This gene can be inherited from either parent and the risk of the gene affecting their offspring is fifty percent (if only one of the parents possess the gene). The genes that are involved with the making of Stickler Syndrome, hold within them, instructions for the encoding of proteins that are a vital part in the development of healthy and functional collagen. As from raredisease.org, they have a whole explanation for the …show more content…
Diagnosis can also come from a clear, recent patient history and of course, the physical effects from the disease. Additional test are also a good idea for the correct diagnosis such as x-rays to reveal abnormalities within the bones and joints, eye exams to check for the jelly-like substance in the eyes (eye exams can also reveal cataracts), and hearing test to measure the different frequencies of sound. Genetic testing is also available. The genetic test can help determine if a certain individual is likely to pass on the