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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Spondyloperipheral dysplasia is caused by variants (also called mutations) in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found 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. Type II collagen is essential for the normal growth and development of bones and other connective tissues.

The variants in the COL2A1 gene that cause spondyloperipheral dysplasia typically affect a region of the protein called the C-propeptide domain. These variants cause cells to produce an abnormal version of the COL2A1 protein, which interferes with the production of mature type II collagen molecules. A reduction in the amount of mature type II collagen in the body disrupts the normal development of bones and other connective tissues, leading to the skeletal abnormalities seen in people with spondyloperipheral dysplasia.

MedlinePlus Genetics: Causes

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Source: MedlinePlus Genetics

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