Reflects the importance of genetic understanding and genetic diagnosis as the current approach to rare diseases

Organizes content around anatomical systems, with concise chapters that cover discrete disorders and conditions

Focuses on diagnosis and management, describing the clinical, laboratory, imaging, and genetic diagnostic features in every chapter to help differentiate disorders with similar symptoms or phenotypes

Contains numerous figures, algorithms, tables, photographs, and radiographic images for enhanced visual guidance

Includes chapters devoted to topics such as Ciliopathies, Neurodegeneration with Brain Iron Accumulation, Cancer Susceptibility Syndromes, Mitochondrial Disorders, Interferonopathies, and Epigenomic and Imprinting Syndromes, and others covering dysmorphology, neurologic, metabolic, genetic, and immune disorders

Shares the knowledge and experience of editors who are leaders in the field of rare diseases in both the U.S. and Europe. Among the talented editors, Dr. Palau is editor-in-chief of Orphanet Journal of Rare Diseases and the first scientific director of CIBERER, the Spanish network of excellence in rare diseases. Dr. Basel is the medical director of the Genetics and Genomics Program at Children’s Wisconsin, named a Center of Excellence by the National Organization for Rare Disorders (NORD)

A unique, comprehensive resource for pediatric specialists, pediatric hospitalists, pediatric fellows, geneticists, and general pediatricians, and an ideal companion volume to Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics and Nelson Textbook of Pediatrics

An eBook version is included with purchase. The eBook allows you to access all of the text, figures, and references, with the ability to search, make notes and highlights, and have content read aloud. Additional digital ancillary content may publish after the publication date