Limb Malformations

Congenital malformations are a major health problem in western societies. They can occur for various reasons ranging from genetic causes in monogenetic and polygenetic conditions to maternal infections and the teratogenic effects of drugs. In many cases, the cause of the malformation remains unknown.

Limb malformations occur at a relatively high frequency and can often be associated with other abnormalities as part of a syndrome. In other cases, they occur as an isolated trait affecting only the limbs. The phenotype of limb malformations is extremely heterogeneous and even among genetically determined conditions a wide variability exists. This often makes an accurate diagnosis difficult. Therefore, one aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process.

With the enormous recent advances in molecular and developmental biology, the genetic basis of many limb