Camurati-Engelmann Disease

Camurati-Engelmann Disease

Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness.

This disease often appears in childhood and is considered to be inherited, however some patients have no previous history of Camurati–Engelmann disease within their family. The disease is slowly progressive and, while there is no cure, there is treatment.

There are approximately 200 known cases worldwide.