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This one is about: Definition of Stickler Syndrome


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Definition of Stickler Syndrome from the Arthritis Foundation's Primer Of Rheumatic Diseases:

The Stickler syndrome is a relatively common, autosomal dominant condition with severe progressive myopia, vitreal degeneration, retinal detachment, progressive sensorineural hearing loss, cleft palate, mandibular hypoplasia, hyper and hypo mobility of joints, variable epiphyseal dysplasia and variable diability resulting from joint pain, dislocation, or degeneration. This condition, also called progressive arthroophthalmopathy, is under-diagnosed, due to patients often not having the full syndrome and to the clinician's failure to obtain a detailed family history that might suggest a hereditary condition. The diagnosis should be strongly considered in 1)any infant with congenitally enlarged (swollen) wrists, knees or ankles, particularly when associated with the Robin anomalad (hypognathia, cleft palate, and glossoptosis); 2) any young adult with degenerative hip disease and 3) anyone suspected of Marfan syndrome who has hearing loss, degenerative arthritis, or retinal detachment. In some families, the Stickler syndrome is linked to the COL2A1 procollagen locus on chromosome 12. The identification of mutations in type II collagen, the structural macromolecule of both cartilage and the vitreous, is proceeding.


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