Mutations in genes such as COL11A1, COL11A2, and COL2A1 lead to structural defects or insufficient expression of type II collagen, disrupting normal development of bones and connective tissues, leading to type II collagenopathies, with common manifestations including cartilage dysplasia, spinal deformities, short stature, and Stickler syndrome (Acke et al., 2012). Here, COL2A1 is linked to type 2 collagenopathy.