The COL2A1 mutations resulting in a premature stop codon are found in less severe phenotypes such as Stickler dysplasia type I (OMIM 108300) characterized by ocular, auditory, skeletal, and orofacial abnormalities or Kniest dysplasia (OMIM 156550) characterized with short stature, restricted joint mobility, and blindness [10, 11]. This evidence concerns the gene COL2A1 and Kniest dysplasia.