Kniest Dysplasia is a rare form of dwarfism caused by a genetic mutation. It is characterized by short stature, a large head, and a curved spine. People with Kniest Dysplasia may also have joint problems, hearing loss, and vision problems. Treatment typically includes physical therapy, occupational therapy, and orthopedic surgery.

The most common symptoms of Kniest Dysplasia include:

-Short stature
-Joint stiffness
-Flat feet
-Abnormal curvature of the spine
-Abnormal chest shape
-Hearing loss
-Vision problems
-Delayed development
-Frequent respiratory infections
-Frequent ear infections
-Frequent fractures
-Joint Pain and swelling
-Abnormal bone growth
-Abnormal joint movement

Kniest Dysplasia is a rare form of dwarfism caused by a genetic mutation in the COL2A1 gene. This gene is responsible for producing a protein called type II collagen, which is essential for the formation of cartilage and other connective tissues. The mutation in the COL2A1 gene results in the production of an abnormal form of type II collagen, which leads to the skeletal abnormalities associated with Kniest Dysplasia.

The treatments for Kniest Dysplasia vary depending on the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and/or the use of assistive devices. In some cases, medications may be prescribed to help manage pain and other symptoms. In severe cases, a bone marrow transplant may be recommended.

The primary risk factor for Kniest Dysplasia is a family history of the disorder. Other risk factors include being of Caucasian descent, being male, and having a parent with achondroplasia.

There is no cure for Kniest Dysplasia, but there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, orthopedic surgery, and medications to help with pain and inflammation.