Diaphyseal Aclasis is a rare genetic disorder characterized by the abnormal development of long bones, leading to the formation of multiple exostoses (bony growths) along the diaphysis (the middle part of a long bone). These bony growths can occur on one or both sides of the affected bones and can vary in size and location. Diaphyseal Aclasis typically presents during childhood or adolescence, with males being more commonly affected than females.
The exact cause of Diaphyseal Aclasis is still unknown. However, it is believed to be caused by mutations in the EXT2 gene, which is responsible for producing a protein involved in bone growth. These mutations result in the overgrowth of cartilage, leading to the formation of exostoses along the diaphysis.
Individuals with Diaphyseal Aclasis may experience symptoms such as localized pain, limited range of motion, and deformity of the affected bones. In some cases, the bony growths may impinge on nearby nerves or blood vessels, causing additional complications.
Treatment for Diaphyseal Aclasis focuses on managing symptoms and complications associated with the condition. This may include pain management, physical therapy, and, in severe cases, surgical removal of the exostoses to improve mobility and alleviate pressure on surrounding tissues.
Overall, Diaphyseal Aclasis is a rare genetic disorder characterized by the abnormal development of multiple bony growths along the diaphysis of long bones. It can lead to various symptoms and complications that require careful management and treatment.
