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Stickler Syndrome

1 Pages 331 Words

Stickler Syndrome

Stickler syndrome is a connective tissue disorder, a genetic malfunction in the tissue that

connects bones, heart, eyes, and ears. This disorder is associated with problems of vision,

hearing, bone and joint , facial and cleft palate, and heart. More serious problems include the gel

which fills the eye deteriorating, the retina deteriorating, eyes moving independent of each other,

and glaucoma. Any of these serious problems can lead to blindness. The hearing loss suffered by

those who are affected will affect either the middle or inner ear. Deafness can result in the

extreme cases. Bone and joint problems consist of arthritis, abnormality to ends of long bones,

vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double

jointed. These will tend to worsen with age. Several facial features are common with Sticklers

syndrome. Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small

ower jaw, and palate abnormalities are possible. Stickler is believed to be the most common

syndrome in the United States and Europe, but one of the rarest to be diagnosed. Most sufferers

have such minor symptoms that they do not seek a diagnoses. It is estimated that 1 in 10,000

people have Stickler Syndrome and only a fraction of them know it. In some families, it has been l

inked to COL2A1 procollagen on Chromosome 12. Research is continuing into the identification

of a number of possible mutations on different Chromosomes. Recent research shows Stickler

syndrome to affect the COL2A1 gene mapped to chromosome 12 and the COL11A1 gene

mapped to chromosome 6. Further case and genetic studies are continuing.

The G-to-A transition resulted in a 54-bp in-frame deletion, which represented deletion of the exon 5-prime of the mutation. This exon sequence was located 108 nucleotides upstream of the...

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