Stickler syndrome

Stickler syndrome ICD-10 code: Q87.8 ICD-9 code: 756.0 Sticklers Syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is an inherited connective tissue disorder affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965 whilst working at Mayo clinic. Stickler syndrome is a subtype of collagenopathy, types II and XI. Contents 1 Causes 2 Symptoms 3 Scientists involved 4 Treatment 5 See also 6 External links Causes 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 person with the syndrome has a 50% chance of passing it on to each child. There are three variants of Stickler syndrome, each associates with a collagen biosynthesis gene. Symptoms The syndrome describes a range of problems all involved with a sufferers connective tissue. The degree to which any or all of these symptoms are present varies from patient to patient. The symptoms of Stickler Syndrome vary from person to person, even within one family and therefore the condition can be hard to diagnose. Characteristic facial features including some degree of cleft palate, a small jaw and a flat face with a small nose and little or no nasal bridge. Speech difficulties often arise from small jaw and cleft palate, but facial features are likely to improve with age. Skeletal abnormalities and joint pain. Hyperextensible joints. Deafness. Glue ear. Eye problems. Usually significant myopia (short sight). In later life other eye problems including retinal detachment (PMID 11433587), cataracts, glaucoma, and blindness often arise. Mitral valve failure. Learning difficulties can also occur because of hearing and sight impairments. Scientists involved Scientists associated with the discovery of this syndrome include: B. David Pierre Robin Gunnar B. Stickler Hans Wagner G. Weissenbacher Ernst Zweymller Treatment Many professionals are likely to be involved in the treatment of those with Stickler's Syndrome, including ophthalmologists, audiologists and rheumatologists. See also Mandy Haberman, inventor of the Haberman Feeder when her daughter, born with Sticklers Syndrome, required special feeding due to cleft palate. External links Stickler Syndrome Support Group Vision Support Guide Another Stickler Syndrome support groupfr:Syndrome de Stickler Search Term: "Stickler_syndrome" Categories: Genetic disorders | Eponymous diseases | Ophthalmology | Rheumatology

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