The term velo-cardio-facial syndrome (VCFS) was coined almost 30 years ago and at that time VCFS was thought to be a very rare congenital malformation. Molecular analysis subsequently revealed that VCFS is associated with deletions encompassing genes mapping to chromosome 22q11, and since that discovery VCFS has been studied intensively by clinicians, geneticists and developmental biologists. Part of this interest is sparked by the relative frequency of the deletion; at 1 in 4000 live births VCFS is the most common microdeletion syndrome known in man.
VCFS patients may present at many different clinics given the protean nature of the condition – over 100 different manifestations have been described in the literature. This book attempts to summarise the rapid progress that has recently been made in understanding and treating people with VCFS. We hope that publication of this book will be useful for several reasons: (1) professionals studying or treating one aspect of VCFS are often relatively unaware of the involvement of other systems and this book will assist them in obtaining a more holistic view of people with VCFS; (2) VCFS may been seen as a paradigm for other less common microdeletion disorders and experience with VCFS may help to direct research and treatment strategies across a range of other microdeletion disorders; (3) while this book emphasises the clinical issues relevant to VCFS, it also reflects the increasing recognition that an understanding of relatively rare disorders such as VCFS can tell us much about more common conditions, such as predisposition to psychiatric illness; (4) the study of the embryological basis for the structural malformations observed in VCFS is helping to uncover some basic mechanisms of developmental biology.