Kniest dysplasia is a rare genetic disorder characterized by abnormalities in the development of bone and cartilage. It falls under the category of skeletal dysplasias, which are conditions that affect the growth and development of the skeleton. The disorder is caused by mutations in the COL2A1 gene, which is responsible for producing type II collagen, a protein crucial for the normal development of cartilage and the vitreous humor of the eye.
