Diastrophic Dysplasia

Diastrophic Dysplasia

Diastrophic dysplasia is a rare genetic disorder affecting skeletal development, resulting in short stature, joint deformities, and spinal abnormalities. It arises from mutations in the SLC26A2 gene, impacting cartilage and bone formation. Early diagnosis and intervention improve quality of life, although no cure exists. Management typically involves surgery and physiotherapy.