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Stickler Syndrome

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Stickler syndrome

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. 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.

 
Stickler syndrome

 Many professionals that are likely to be involved in the treatment of those with Stickler's syndrome, include oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, audiologists and rheumatologists. The incidence of major bleeding associated with the use of chemoprophylaxis is reported as high as 4%-7.9% in the literature. There exists a direct correlation between the efficacy of the antithrombotic agents and their associated haemorrhagic complication rate. Major research is going on arthro-ophthalmopathy and genetic disorder research centers

 

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