Phocomelia

Disease Overview

Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the condition ranges from a single limb to both upper and lower limbs. In many cases, the underlying cause of phocomelia is poorly understood. It can be inherited as part of a genetic syndrome. Phocomelia can also be caused by maternal exposure to certain drugs (such as thalidomide) during pregnancy. There is no specific treatment for phocomelia. However, if it is part of a genetic syndrome, surgical intervention may be recommended for associated malformations.[13352][13353]