Kniest Dysplasia is a rare genetic disorder that affects the development of bones and connective tissues. It falls under the category of skeletal dysplasias, which are a group of conditions characterized by abnormal bone growth and development. Kniest Dysplasia specifically affects the growth of long bones, such as those in the arms and legs, as well as the spine.
Individuals with Kniest Dysplasia typically have short stature and a shortened trunk. They may also have a range of other physical features, including a flattened facial appearance, a cleft palate, and joint deformities. These symptoms can vary in severity from person to person.
The condition is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen. This protein is essential for the normal development of cartilage and other connective tissues. The specific mutations in the gene disrupt the production or structure of type II collagen, leading to the characteristic features of Kniest Dysplasia.
While there is no cure for Kniest Dysplasia, treatment focuses on managing the symptoms and improving quality of life. This may involve a multidisciplinary approach, including orthopedic interventions, physical therapy, and assistive devices. Regular medical monitoring is important to address any complications that may arise.