Campomelic dysplasia

Campomelic dysplasia, abbreviated CMD, is a genetic disorder characterized by bowing of the long bones along with many other skeletal and extraskeletal features. It can be lethal in the newborn period because of respiratory insufficiency, but severity varies and a significant proportion of patients survive into adulthood. The name comes from the Greek roots campo, meaning bent, and melia, meaning limb. Up to two thirds of affected 46,XY genotypic males show disorders of sexual development with ambiguous genitalia, and some develop as phenotypic females. An atypical form without bowed limbs, called acampomelic campomelic dysplasia, occurs in about ten percent of patients, particularly those who survive the newborn period.