Signs and Symptoms of Genetic Conditions

<jats:title>Abstract</jats:title> <jats:p>Comprising diagnostic algorithms from the world’s leading clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical guide to the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter highlights a particular clinical finding and guides the user through a step-by-step approach to developing a differential diagnosis. To maximize clinical utility, this handbook features prominent flow chart diagrams that graphically depict the diagnostic approach, concise recommendations for laboratory and/or imaging studies, health supervision and management strategies for the most common conditions associated with each sign or symptom, and a curated list of references at the end of each chapter to facilitate further in-depth exploration of the subject matter. The second edition of this extensively utilized diagnostic guide has been expanded to include additional clinical presentations indicative of potential genetic conditions. In addition, it now features a comprehensive overview of genetic counseling principles and an updated discussion of the application of next-generation sequencing technologies—particularly whole-exome and whole-genome sequencing—in the diagnostic evaluation of individuals with suspected genetic conditions. Designed to serve a diverse audience—including medical genetics residents, graduate students in genetic counseling, genetic nurse practitioner trainees, postdoctoral human genetics researchers, and experienced clinicians—Signs and Symptoms of Genetic Conditions remains an essential resource for the diagnosis and management of both common and rare human genetic disorders.</jats:p>