What is orthosclerosis?

Orthosclerosis is a rare genetic disorder that affects the bones, especially the long bones in the legs and arms. It is a type of osteosclerosis, which refers to an abnormal increase in bone density.

People with orthosclerosis have dense bones that are brittle and prone to fractures. The condition can lead to problems such as short stature, limited joint mobility, and an increased risk for deformities and bone fractures.

Orthosclerosis is caused by mutations in a gene called LRP5, which is involved in the regulation of bone growth and density. The condition is usually inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the condition on to their children.

Treatment for orthosclerosis is mainly focused on managing symptoms and preventing bone fractures. This may involve medications to improve bone strength, physical therapy to improve mobility, and braces or other devices to support the bones. In some cases, surgery may be necessary to repair fractures or correct deformities.