Mutations in the COL11A2 gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13) (McGuirt et al., 1999), and DFNB 53 deafness (DFNB53). This evidence concerns the gene COL11A2 and otospondylomegaepiphyseal dysplasia.