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skos:definition |
JABL: Progressive myopia beginning in late childhood, vitreoretinal degeneration, retinal detachment causing blindness, cataracts, hearing loss, cleft palate, and spondyloepiphyseal dysplasia. The craniofacial features range from essentially normal face to dish facies with micrognathia, depressed bridge of the nose, long philtrum, and prominent eyes. Patients with Stickler syndrome often have the feature of Robin syndrome (brachygnathia, cleft palate, glossoptosis, and backward and upward displacement of the larynx). Some cases have mental retardation. The clinical manifestations are variable and may differ from one patient to another. Stickler syndrome shares many characteristics with the Marshall, Wagner, and Walden syndromes and is sometimes designated as the Marshall-Stickler, Wagner-Stickler, or Walden syndrome. The radiographic characteristics of the Stickler syndrome during infancy resembles those of the Weisssenbacher-Zweimuller syndrome.,NCI: A rare autosomal dominant syndrome caused by mutations in
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