Alina Kozhevnikova Disability: What Is Diastrophic Dysplasia?

Diastrophic Dysplasia is a hereditary genetic disorder affecting cartilage. Diastrophic dysplasia can affect the development of body parts including the hands, face, ears, feet, hips, legs and spine.

People with diastrophic dysplasia are generally shorter than average in height. There is no specific treatment for diastrophic dysplasia, but complications like scoliosis and clubfeet are often treated with surgery or the use of special braces or shoes to realign the bones. The goal of treatment is to help those who have it maintain mobility and strength.

CAUSES OF DIASTROPHIC DYSPLASIA

Diastrophic Dysplasia is caused by an autosomal recessive disorder on the gene called DTDST, which means both parents must carry this abnormal gene to have a child with Diastrophic Dysplasia.

Diastrophic Dysplasia is one of the several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone.