COL11A2 is associated with several skeletal dysplasia diseases, including fibrochondrogenesis (Tompson et al., 2012) and Stickler syndrome, which is characterized by cartilage destabilization and abnormal skeletal shape and properties (Avcin et al., 2008; Li et al., 2001; Melkoniemi et al., 2000). Here, COL11A2 is linked to Stickler syndrome.