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.

Fetal alcohol spectrum disorders (FASD) represent a range of physical, mental, and behavioral disabilities caused by alcohol use during pregnancy, or prenatal alcohol exposure (PAE). FASDs are considered to be one of the leading causes of developmental disability, with an estimated 2-5% of children being born with FASD each year in the world. Despite its high prevalence, FASD is often misdiagnosed or underdiagnosed, making intervention more challenging. A multidisciplinary team of providers who understand the diagnostic requirements is crucial for an accurate FASD diagnosis.This text provides a comprehensive, state-of-the art review of this field, and serves as a valuable resource for clinicians and researchers with an interest in FASD. The book provides a detailed overview for clinicians of various backgrounds on the diagnostic process, extensive mechanistic and embryologic data, neuropsychologic aspects of the condition, prevention and treatment approaches, and the ethical, legal, and policy perspectives that impact patients and families.The chapters are organized parallel to the journey of individuals who experience alcohol-related conditions, beginning with the prenatal period addressing epidemiology of alcohol exposure, prevention and interventions, continuing through the fetal experience with a focus on embryology. Challenges of children and their families are considered next including the diagnostic process and health effects. Finally, issues related to systems of care for individuals with FASD and the broader community are addressed. The global context of FASD is presented throughout the textbook.Written by experts in the field, Fetal Alcohol Spectrum Disorders provides a concise yet comprehensive summary of the current status of this issue that helps guide prevention efforts, the diagnostic process, school and community interventions, and global policy efforts.

Fetal alcohol spectrum disorders (FASD) represent a range of physical, mental, and behavioral disabilities caused by alcohol use during pregnancy, or prenatal alcohol exposure (PAE). FASDs are considered to be one of the leading causes of developmental disability, with an estimated 2-5% of children being born with FASD each year in the world. Despite its high prevalence, FASD is often misdiagnosed or underdiagnosed, making intervention more challenging. A multidisciplinary team of providers who understand the diagnostic requirements is crucial for an accurate FASD diagnosis.This text provides a comprehensive, state-of-the art review of this field, and serves as a valuable resource for clinicians and researchers with an interest in FASD. The book provides a detailed overview for clinicians of various backgrounds on the diagnostic process, extensive mechanistic and embryologic data, neuropsychologic aspects of the condition, prevention and treatment approaches, and the ethical, legal, and policy perspectives that impact patients and families.The chapters are organized parallel to the journey of individuals who experience alcohol-related conditions, beginning with the prenatal period addressing epidemiology of alcohol exposure, prevention and interventions, continuing through the fetal experience with a focus on embryology. Challenges of children and their families are considered next including the diagnostic process and health effects. Finally, issues related to systems of care for individuals with FASD and the broader community are addressed. The global context of FASD is presented throughout the textbook.Written by experts in the field, Fetal Alcohol Spectrum Disorders provides a concise yet comprehensive summary of the current status of this issue that helps guide prevention efforts, the diagnostic process, school and community interventions, and global policy efforts.

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.

Fetal alcohol spectrum disorders (FASD) represent a range of physical, mental, and behavioral disabilities caused by alcohol use during pregnancy, or prenatal alcohol exposure (PAE). FASDs are considered to be one of the leading causes of developmental disability, with an estimated 2-5% of children being born with FASD each year in the world. Despite its high prevalence, FASD is often misdiagnosed or underdiagnosed, making intervention more challenging. A multidisciplinary team of providers who understand the diagnostic requirements is crucial for an accurate FASD diagnosis.This text provides a comprehensive, state-of-the art review of this field, and serves as a valuable resource for clinicians and researchers with an interest in FASD. The book provides a detailed overview for clinicians of various backgrounds on the diagnostic process, extensive mechanistic and embryologic data, neuropsychologic aspects of the condition, prevention and treatment approaches, and the ethical, legal, and policy perspectives that impact patients and families.The chapters are organized parallel to the journey of individuals who experience alcohol-related conditions, beginning with the prenatal period addressing epidemiology of alcohol exposure, prevention and interventions, continuing through the fetal experience with a focus on embryology. Challenges of children and their families are considered next including the diagnostic process and health effects. Finally, issues related to systems of care for individuals with FASD and the broader community are addressed. The global context of FASD is presented throughout the textbook.Written by experts in the field, Fetal Alcohol Spectrum Disorders provides a concise yet comprehensive summary of the current status of this issue that helps guide prevention efforts, the diagnostic process, school and community interventions, and global policy efforts.

Fetal alcohol spectrum disorders (FASD) represent a range of physical, mental, and behavioral disabilities caused by alcohol use during pregnancy, or prenatal alcohol exposure (PAE). FASDs are considered to be one of the leading causes of developmental disability, with an estimated 2-5% of children being born with FASD each year in the world. Despite its high prevalence, FASD is often misdiagnosed or underdiagnosed, making intervention more challenging. A multidisciplinary team of providers who understand the diagnostic requirements is crucial for an accurate FASD diagnosis.This text provides a comprehensive, state-of-the art review of this field, and serves as a valuable resource for clinicians and researchers with an interest in FASD. The book provides a detailed overview for clinicians of various backgrounds on the diagnostic process, extensive mechanistic and embryologic data, neuropsychologic aspects of the condition, prevention and treatment approaches, and the ethical, legal, and policy perspectives that impact patients and families.The chapters are organized parallel to the journey of individuals who experience alcohol-related conditions, beginning with the prenatal period addressing epidemiology of alcohol exposure, prevention and interventions, continuing through the fetal experience with a focus on embryology. Challenges of children and their families are considered next including the diagnostic process and health effects. Finally, issues related to systems of care for individuals with FASD and the broader community are addressed. The global context of FASD is presented throughout the textbook.Written by experts in the field, Fetal Alcohol Spectrum Disorders provides a concise yet comprehensive summary of the current status of this issue that helps guide prevention efforts, the diagnostic process, school and community interventions, and global policy efforts.