What Is Diastrophic Dysplasia, Diastrophic Dysplasia is a cartilage-related inherited genetic condition. Diastrophic dysplasia can impact the development of the hands, face, ears, feet, hips, legs, and spine, among other body parts.
What Is Diastrophic Dysplasia
Diastrophic dysplasia causes people to be lower than usual in height. Diastrophic dysplasia has no specific therapy, however problems such as scoliosis and clubfeet are frequently addressed with surgery or the use of special braces or shoes to correct the bones. The purpose of treatment is to maintain mobility and strength in individuals who have it.
CAUSES OF DIASTROPHIC DYSPLASIA
Diastrophic Dysplasia is caused by an autosomal recessive condition on the DTDST gene, which implies that a kid with Diastrophic Dysplasia must have both parents carry this faulty gene.
Mutations in the SLC26A2 gene cause a variety of skeletal abnormalities, including Diastrophic Dysplasia. This gene codes for a protein that is required for the correct development of cartilage and the conversion of cartilage to bone.