Signs and Symptoms of Genetic Conditions

A Handbook

By: H. Eugene Hoyme

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eText | 22 September 2026 | Edition Number 2

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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.