Kniest Dysplasia

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).

• What are the physical characteristics of Kniest Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References