Kniest dysplasia

Kniest Dysplasia

Kniest dysplasia (pronounced: /ˈnaɪst/ dys-pla-sia) is a rare type of skeletal dysplasia that affects the development of bones and cartilage throughout the body. The condition is named after Dr. Wilhelm Kniest, the German pathologist who first described it in 1952.

Etymology

The term "Kniest dysplasia" is derived from the name of the doctor who first described the condition (Kniest) and the Greek word "dysplasia", which means abnormal growth or development.

Symptoms

People with Kniest dysplasia often have short stature, with particularly short arms and legs. Other common symptoms include enlarged joints, a round, flat face, hearing loss, and vision problems. Some people may also have breathing difficulties due to abnormalities in the rib cage and spine.

Causes

Kniest dysplasia is caused by mutations in the COL2A1 gene, which provides instructions for making a protein that forms type II collagen. This type of collagen is found in the cartilage and is essential for the normal development of bones and other connective tissues.

Diagnosis

Diagnosis of Kniest dysplasia is usually based on the characteristic physical features and symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the COL2A1 gene.

Treatment

There is currently no cure for Kniest dysplasia. Treatment is aimed at managing the symptoms and may include physical therapy, surgery to correct bone abnormalities, and treatment for hearing and vision problems.

Related Terms

• Skeletal dysplasia
• COL2A1
• Collagen
• Genetic testing
• Physical therapy

External links

• Medical encyclopedia article on Kniest dysplasia
• Wikipedia's article - Kniest dysplasia

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