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Stickler Syndrome Share this page Facebook  Twitter  LinkedIn  Google+  Pinterest   Blogger

  • Stickler syndrome

    Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. This combination of features can lead to feeding problems and difficulty breathing. The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning a person with the syndrome has a 50% chance of passing it on to each child.

  • Stickler syndrome

    There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome. Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.

  • Stickler syndrome

     The patients with Stickler syndrome consisted of 21 (42%) women and 29 (58%) men, with a mean age of 29.56 years. Of the 50 patients, 34 (68%) had traumatic and 16 (32%) had spontaneous Stickler syndrome. Of traumatic Stickler syndrome group 24 (70.6%) were men and 10 (29.4%) were women. Stickler syndrome was more common in the temporal areas than other areas (40.5%)

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