Overall, the estimated prevalence of Stickler syndrome is about 10 in 100,000 people. Other, as yet unknown, genes may also cause Stickler syndrome because not all individuals with the condition have mutations in one of the three identified genes. Defective collagen molecules or reduced amounts of collagen affect the development of bones and other connective tissues, leading to the characteristic features of Stickler syndrome. Mutations in any of these genes disrupt the production, processing, or assembly of type II or type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissue (the tissue that supports the body's joints and organs). These genes are involved in the production of type II and type XI collagen. Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome. They also have hearing problems that affect the inner or middle ear, and can lead to deafness. Retinal detachment, which occurs when the gel inside the eye deteriorates, squint, and glaucoma are examples of severe eye problems, because they can lead to blindness. Examples of these are near sightedness, astigmatism, and cataracts, which are mild because they can be fixed by having surgery or wearing a certain type of glasses. Some of the problems are mild and others are severe. People with this disease often have lots of eye problems. A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome. In the visual system one discovers a congenital high myopia, pathological changes in the vitreous in the form of membranes and proliferative bands as well as retinal detachment. Stickler's syndrome, or congenital, progressive arthro-ophthalmopathy, refers to disturbances of the connective tissue of the organism but mainly the osteoarticular and visual systems. Stickler syndrome is an autosomal dominant condition, meaning only one parent needs to have an abnormal gene for the child to inherit the disease.Ī person with Stickler syndrome has a 50% chance for each pregnancy of passing this mutation on to the child. There are three variants of Stickler syndrome, each associates with a collagen biosynthesis gene. 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. The syndrome is thought to arise from a mutation of several collagen genes during fetal development. Stickler syndrome is inherited in an autosomal dominant pattern. The classification of these conditions is changing as researchers learn more about the genetic causes. Each type is presented here according to the gene involved. Whether there are two or three types of Stickler syndrome is controversial. Genetic changes are related to the following types of Stickler syndrome: Scientists associated with the discovery of this syndrome include: Stickler syndrome is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Stickler syndrome is a subtype of collagenopathy, types II and XI. It was first studied and characterised by Dr. Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. Synonyms and keywords: Stickler syndrome, type I STL1 Stickler syndrome, vitreous type 1 Stickler syndrome, membranous vitreous type arthroophthalmopathy, hereditary progressive AOM hereditary arthro-ophthalmopathy Stickler syndrome, type III ST元 Stickler syndrome, nonocular type David-Stickler syndrome Stickler-Wagner syndrome List of terms related to Stickler syndromeĮditor-In-Chief: C. Risk calculators and risk factors for Stickler syndromeĬauses & Risk Factors for Stickler syndrome US National Guidelines Clearinghouse on Stickler syndromeĭirections to Hospitals Treating Stickler syndrome Ongoing Trials on Stickler syndrome at Clinical Ĭlinical Trials on Stickler syndrome at Google Most recent articles on Stickler syndromeĪrticles on Stickler syndrome in N Eng J Med, Lancet, BMJĬochrane Collaboration on Stickler syndrome
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