This fourth edition of the book Cassidy’s and Allanson’s Management of Genetic Syndromes will be unchanged in character but will be current in its content. It will include updated information on identification (including newly-developed diagnostic criteria), genetic basis and diagnostic testing, and management for each of the 59 included disorders.
The aims of this book have not changed: to provide a resource on diagnosis, genetic counseling and management for medical professionals (medical geneticists, genetic counselors, and primary care providers) caring for individuals of all ages affected by relatively common genetic syndromes. It will continue to exclude traditional metabolic disorders, which are well-covered in other resources. The format will remain essentially unchanged, though the editors will once again examine the feasibility of a brief tabular summary of recommended evaluations at the end of each chapter. (Ideally these concise summaries could be available and freely accessible online). Again, each chapter will be organized in the same manner and cover the same general topics. In addition, there will be an increase in the number of disorders slightly to approximately 60 as a result of new expertise, newly recognized conditions, and conditions whose frequency has recently been recognized to be higher than previously realized.
The rationale for a new edition is to assure that information is up to date in the rapidly changing field of medical genetics and genetic diagnostic testing. The sales figures for the prior editions, and the enthusiasm with which they were received, indicate that there is a strong need for this book on the topic of managing genetic syndromes. The relatively recent availability of even more sophisticated molecular diagnostic testing for an exponentially increasing number of genetic conditions has increased the number of individuals who are identified as having them, and has made it even more imperative for primary care providers and genetic practitioners to have access to information about their appropriate management.