Signs and Symptoms of Genetic Conditions (Paperback)

Signs and Symptoms of Genetic Conditions brings together diagnostic algorithms developed by leading clinical geneticists to provide a practical manual for the diagnosis and management of common human genetic disorders based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and guides the user through a step-by-step approach to a differential diagnosis.

To maximize clinical utility, this handbook features: diagrams outlining the diagnostic approach; concise recommendations for laboratory and imaging studies; health supervision and management strategies for the most common conditions; and a curated list of references to facilitate deeper explorations of the subject matter.

This revised second edition includes additional clinical presentations indicative of potential genetic conditions. It also provides a comprehensive overview of genetic counseling principles and examines the application of next-generation sequencing technologies--particularly whole exome and whole genome sequencing--in the diagnostic evaluation of individuals with suspected genetic conditions.

Written for residents, students, and experienced clinicians alike, this guide is an indispensable resource for the diagnosis and management of both common and rare human genetic disorders.

H. Eugene Hoyme, MD, is a recognized international authority in medical genetics and fetal alcohol spectrum disorders. He currently serves as the Medical Director of the Sanford Children's Genomic Medicine Consortium-a collaborative initiative in pediatric precision medicine uniting 12 prominent children's hospitals and research universities. His previous roles include Chair of the Department of Pediatrics at the University of South Dakota Sanford School of Medicine, President of Sanford Research, and Chief Academic Officer at Sanford Health. Earlier in his career, Dr. Hoyme also held prominent academic and leadership positions at Stanford University, Lucile Packard Children's Hospital, and the University of Vermont.

Omar A. Abdul-Rahman, MD, is Chief of Medical Genetics for the Department of Pediatrics at Weill Cornell Medicine and New York-Presbyterian Komansky Children's Hospital. After completing his medical and pediatrics residency at the University of Mississippi School of Medicine, he trained in clinical genetics at Stanford University. He has also served in various roles including Division Chief of Medical Genetics and interim Chair of the Department of Pediatrics, Mississippi and Director of the Department of Genetic Medicine at the Munroe-Meyer Institute in the University of Nebraska Medical Center.

Margaret P. Adam, MD, is an Attending Physician at Seattle Children's Hospital and a Professor in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington School of Medicine. She is also the primary Clinical Geneticist in the Multidisciplinary Differences of Sex Development (DSD) Clinic at Seattle Children's Hospital and provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Dr Adam is Editor in Chief for GeneReviews, an NIH-supported, free, online, peer-reviewed reference for genetic conditions.

Helga V. Toriello, PhD, is the Professor of Pediatrics and Human Development at the College of Human Medicine, Michigan State University and Director of Clinical Genetics at Spectrum Health Hospitals in Grand Rapids. She received her PhD in genetics from Michigan State University.