Learn About Kniest Dysplasia

What is the definition of Kniest Dysplasia?

Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.

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What are the causes of Kniest Dysplasia?

Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.

How prevalent is Kniest Dysplasia?

Kniest dysplasia is a rare condition; the exact incidence is unknown.

Is Kniest Dysplasia an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest Kniest Dysplasia Clinical Trials?
An International Prospective Natural History Study in Children With a Type II Collagen Disorder With Short Stature

Summary: There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well as data to support identification of possible risk factors. This study aims to build a natural history data set through collection of a number of clinical, imaging, and lab...

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Who are the sources who wrote this article ?

Published Date: July 01, 2008Published By: National Institutes of Health

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