The birth of a child with malformation gives rise to a mixture of strong feelings and often makes us search for an explanation for its occurrence. Since human reproduction is a complex process, congenital abnormalities can occur due to errors at any stage of embryogenesis. This book discusses the classification of malformations and incidence of malformations of the different systems. It gives a clear description of its etiology and also discusses the genetic aspect of the malformations. Various methodologies for holistic evaluation of congenital malformations include epidemiological studies, cytogenetic evaluation and animal experimentation. The present study shows that many human malformations arise because of the interplay of precisely timed genetic and environmental interactions, though some of them may be solely genetically determined. Based on the results and analyses of the present study management strategies are recommended to prevent, diagnose or treat the congenital malformations.