Kniest

Kniest dysplasia is a rare type of dwarfism that is characterized by short stature, enlarged joints and other skeletal abnormalities. It is a type of skeletal dysplasia, a group of disorders that affect the growth and development of the bones. 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 mostly in the cartilage that forms the skeleton during early development.

Symptoms

The symptoms of Kniest dysplasia can vary widely from person to person. Some people may have mild symptoms, while others may have severe symptoms. Common symptoms include:

• Short stature
• Enlarged joints
• Skeletal abnormalities such as scoliosis (curvature of the spine), kyphosis (forward rounding of the back), and pectus carinatum (protrusion of the chest)
• Hearing loss
• Vision problems
• Breathing problems

Diagnosis

Kniest dysplasia can be diagnosed based on the symptoms and physical examination. Imaging tests such as X-rays and MRI can also be used to confirm the diagnosis. Genetic testing can be done to identify the mutation in the COL2A1 gene.

Treatment

There is no cure for Kniest dysplasia, but the symptoms can be managed with treatment. This may include physical therapy, surgery to correct skeletal abnormalities, and treatment for hearing and vision problems.

See also

• Dwarfism
• Skeletal dysplasia
• COL2A1
• Collagen

Kniest Resources
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