The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline facial hypoplasia.1 The disease is caused by mutations of the COL2A1, COL9A1, COL11A1 or COL11A2 genes; these genes control the synthesis of type II, type IX and type XI collagens, respectively. The gene discussed is COL9A1; the disease is Stickler syndrome.