Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and sensorineural); with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, and COL9A3 procollagen genes cause Stickler syndrome.

中文翻译：

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蒙古家系首次分子诊断具有致病性 COL2A1 变异的 Stickler 综合征病例报告

Stickler 综合征是一组结缔组织疾病，可影响眼睛（近视、白内障和视网膜脱离）、骨骼（脊椎骨骺发育不良和早熟性关节炎）、颅面（中面部发育不全和腭裂）和内耳（传导和感觉神经） ; 症状的程度因患者而异。COL2A1、COL11A1、COL11A2 、COL9A1、COL9A2和COL9A3前胶原基因的突变导致 Stickler 综合征。