Camurati-Engelmann disease

Camurati-Engelmann disease, abbreviated CED and also called progressive diaphyseal dysplasia, is a very rare autosomal dominant genetic disorder that produces characteristic anomalies of the skeleton. It is a form of dysplasia in which bones become heavily thickened, especially along the shafts of the long bones. The skull bones may also thicken, narrowing the passages that carry nerves and blood vessels and possibly leading to sensory deficits, blindness or deafness. It often appears in childhood and is considered inherited, although many patients have no family history. It progresses slowly and has no cure, though there is treatment. It is named for M. Camurati and G. Engelmann. This record is not medical advice.