What does the name mean?
Dr. Wilhelm Kniest first described this condition in 1952 at the Children’s Hospital of the University of Jena. It was previously thought to be a variant of metatropic dysplasia, sometimes called Pseudometatropic or Metatropic dysplasia Type II.
How common is Kniest dysplasia?
Kniest dysplasia is a rare form of cartilage dysplasia; the estimated incidence is less than 1 in 1,000,000 (4).
Is Kniest dysplasia inherited?
Kniest syndrome is inherited in an autosomal dominant manner (1).
What causes Kniest dysplasia?
Kniest dysplasia results from a mutation in the gene coding for Collagen Type II (COL2A1) found on chromosome 12. Collagen Type II is a structural protein present in intervertebral discs, cartilage, and the eyeball (1).