Chapter 1

Molecular mechanism of dysmorphology

Abstract/Preface

Dysmorphology is a discipline of medical genetics that studies body structural changes from normal to abnormal for understanding the patterns of variation, etiologies, classification, and pathophysiology and utilizing that knowledge in the management of structural birth defects. Structural birth defects (SBDs) are congenital birth defects that all have changes in size or shape or symmetry of any tissue(s), and they can be recognized as anomalies through clinical or non-molecular investigations at birth or later in life [1].