Hyperplastic chondrodystrophy (HCD) is a rare hereditary skeletal disease caused by an autosomal dominant mutant gene responsible for disruption of the SRY gene (sex-determining Y-type gene). HDD is diagnosed in the presence of deformation of the epiphyseal plate, localized in adults, and multiosteotic lesions, with a clinical history of up to 30 years. Patients with HDD have lower metabolic activity of cartilage chondroblasts compared to healthy individuals.
Chondrodysplasia is a chronic joint disease in which the cartilage in the joints does not fully develop or degrades and forms bone growths. It manifests itself as pathological enlargement of joints, pain, limitation of movement, as well as shortening of the limb due to improper growth.
All joints of the body are susceptible to hyperplasia. This is the most common
Chondrodysplasia hyperplasticus (CHD) is a rare hereditary disease manifested by the formation of typical exophytic and exophthalmic deformations of the skull, limb bones, chest, spine and visceral organs. The main cause of the pathology is mutations in the COL2A1 gene, responsible for the synthesis of cartilage