VACTERL Association Reprint of: Molecular Syndromology 2013, Vol. 4, No. 1-2

This collection of articles describes the current medical and biological knowledge related to VACTERL/VATER association. VACTERL association is a fascinating condition involving malformations that can affect the skeletal, gastrointestinal (and genitourinary), cardiac, pulmonary, and renal systems. The disorder is also related to many other clinically and biologically related conditions. This publication presents cutting-edge summaries and research describing diverse aspects of these conditions, including the latest knowledge related to clinical aspects of disease manifestations and pathogenesis, embryology and developmental biology, key implicated signaling pathways, animal models of disease pathogenesis, techniques of molecular discovery related to the causes of human disease, and important considerations involving the differential diagnosis. This compendium should serve as a touchstone for future clinical and research endeavors as the growing body of medical research continues to unravel the mysteries of VACTERL association. This collection is anticipated to be valuable to a diverse group of clinicians and researchers. First, by increasing the understanding of aspects of disease etiology and manifestations, the articles may help clinicians who encounter affected patients and families. Second, descriptions of the state-of-the art scientific knowledge may provide biological insight into current models of disease pathogenesis and inspire novel avenues of research.