What causes diastrophic dysplasia?

What causes diastrophic dysplasia?

Diastrophic dysplasia is caused by a genetic mutation. It’s hereditary, which means it can be passed down in families.

The mutation affects a gene that’s important to the development of cartilage. Cartilage is a tough but flexible tissue that forms a fetus’ skeleton in the early stages of human development.

Most cartilage turns to bone as a baby develops, except for a few areas (ends of bones, nose and ears). But when this mutation occurs, the gene cannot properly contribute to the formation of cartilage and bones.