campomelic dysplasia

Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features.

It is frequently lethal in the neonatal period due to respiratory insufficiency, but the severity of the disease is variable, and some patients survive into adulthood.

The name is derived from the Greek roots campo (or campto), meaning bent, and melia, meaning limb. An unusual aspect of the disease is that up to two-thirds of affected 46,XY genotypic ...