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What are the latest advances in Kniest Dysplasia?

Here you can see the latest advances and discoveries made regarding Kniest Dysplasia.

Latest progress of Kniest Dysplasia
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s a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12.[1] The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones.[2] This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr. Kniest noticed that his 50 year old patient was having difficulties with restricted joint mobility. The patient had a short stature and was also suffering from blindness. Upon analysis of the patient's DNA, Dr. Kniest discovered that a mutation had occurred at a splice site of the COL2A1 gene. This condition is very rare and occurs less than 1 in 1,000,000 people. Males and females have equal chances of having this condition.[3] Currently, there is no cure for kniest dysplasia. Alternative names for Kniest Dysplasia can include Kniest Syndrome, Swiss Cheese Cartilage Syndrome, Kniest Chondrodystrophy, or Metatrophic Dwarfism Type II.

Posted Oct 31, 2018 by Shere 2500

Latest progress of Kniest Dysplasia

Kniest Dysplasia life expectancy

What is the life expectancy of someone with Kniest Dysplasia?

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Celebrities with Kniest Dysplasia

Celebrities with Kniest Dysplasia

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Is Kniest Dysplasia hereditary?

Is Kniest Dysplasia hereditary?

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Is Kniest Dysplasia contagious?

Is Kniest Dysplasia contagious?

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Natural treatment of Kniest Dysplasia

Is there any natural treatment for Kniest Dysplasia?

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ICD9 and ICD10 codes of Kniest Dysplasia

ICD10 code of Kniest Dysplasia and ICD9 code

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Living with Kniest Dysplasia

Living with Kniest Dysplasia. How to live with Kniest Dysplasia?

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Kniest Dysplasia diet

Kniest Dysplasia diet. Is there a diet which improves the quality of life o...

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