Nelson Pediatric Textbook of Rare Diseases
Genomic Etiologies and Genetic Diagnosis
- 1st Edition - September 11, 2026
- Latest edition
- Editors: Robert Kliegman, Francesc (Paco) Palau, Brett J. Bordini
- Language: English
A new addition to the highly esteemed Nelson family of pediatric references, Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, edited by Drs… Read more
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Description
Description
A new addition to the highly esteemed Nelson family of pediatric references, Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, edited by Drs. Robert Kliegman and Francesc (Paco) Palau, along with Associate Editors, Drs. Basel, Gropman, Slavotinek, Bacino, Rahman and Verbsky, provides a detailed and comprehensive guide to the diagnosis of rare disorders and the approach to undiagnosed diseases—offering in-depth content on a topic often just touched on in other pediatric textbooks. Written by the most prominent experts from around the world, this definitive text is an indispensable resource for any clinician treating pediatric patients.
Key features
Key features
- 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, customize your content, make notes and highlights, and have content read aloud. Additional digital ancillary content may publish up to 6 weeks following the publication date
Readership
Readership
Pediatric specialists, pediatric hospitalists, pediatricians involved in undiagnosed and rare diseases, geneticists
Table of contents
Table of contents
Section I Introductory Chapters
1. Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease
Brett J. Bordini, Donald G. Basel
2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies
Francesc Palau, Guerau Fernandez, Janet Hoenicka, Rafael Artuch, Jordi Muchart
3. The Approach to Rare Diseases: From Local to Global
David Adams, Gareth Baynam, Mariela Larrandaburu, Helen Malherbe, Carmencita D. Padilla, Francesc Palau
Section II Developmental Structural Disorders
4. Epigenetics, Genomic Imprinting, and Imprinting Disorders
Nada Derar, Yong-Hui Jiang
5. Dysmorphology and Phenotyping
Shahida Moosa, Peter M. Krawitz
6. Ciliary Signaling and Dysmorphology
Fowzan S. Alkuraya
7. Ciliopathies: Clinical Presentations and Syndromes
Katharina Lemberg, Friedhelm Hildebrandt
8. Mosaic Overgrowth Syndromes
Leslie G. Biesecker
9. Ectodermal Dysplasia
Pilar Magoulas, Raymond Belanger Deloge, V. Reid Sutton
10. Heritable Disorders of Connective Tissue
Fransiska Lieve Malfait
11. Genetic Disorders of Bone
Andrea Superti-Furga, Sheila Unger, Carlos Ferreira
Section III Neuro-Sensory Disorders
12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors
Amandeep Jutla, Jeremy Veenstra-VanderWeele
13. Neurodegeneration With Brain Iron Accumulation
Allison Gregory, Susan J. Hayfl ick
14. Disorders of Movement
Hereditary Ataxias: Susan L. Perlman Hereditary Choreas: Carlos Estevez-Fraga, Juan Carlos Martinez-Castrillo, Pedro J. Garcia-Ruiz Hereditary Dystonia: Belén Pérez-Dueñas, Anna Marcé-Grau, Roser Pons
15. Fever-Associated Seizures and Epilepsies
Laia Nou Fontanet, Jaume Campistol Plana, Alexis Arzimanoglou
16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies
Susana Boronat
17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies
Davide Pareyson, Isabella Moroni
18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies
Teresa Sevilla, Rafael Sivera, Herminia Argente-Escrig
19. Metabolic Myopathies
Pascal Laforêt, Pascale De Lonlay
20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias
Emma Matthews
1. Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease
Brett J. Bordini, Donald G. Basel
2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies
Francesc Palau, Guerau Fernandez, Janet Hoenicka, Rafael Artuch, Jordi Muchart
3. The Approach to Rare Diseases: From Local to Global
David Adams, Gareth Baynam, Mariela Larrandaburu, Helen Malherbe, Carmencita D. Padilla, Francesc Palau
Section II Developmental Structural Disorders
4. Epigenetics, Genomic Imprinting, and Imprinting Disorders
Nada Derar, Yong-Hui Jiang
5. Dysmorphology and Phenotyping
Shahida Moosa, Peter M. Krawitz
6. Ciliary Signaling and Dysmorphology
Fowzan S. Alkuraya
7. Ciliopathies: Clinical Presentations and Syndromes
Katharina Lemberg, Friedhelm Hildebrandt
8. Mosaic Overgrowth Syndromes
Leslie G. Biesecker
9. Ectodermal Dysplasia
Pilar Magoulas, Raymond Belanger Deloge, V. Reid Sutton
10. Heritable Disorders of Connective Tissue
Fransiska Lieve Malfait
11. Genetic Disorders of Bone
Andrea Superti-Furga, Sheila Unger, Carlos Ferreira
Section III Neuro-Sensory Disorders
12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors
Amandeep Jutla, Jeremy Veenstra-VanderWeele
13. Neurodegeneration With Brain Iron Accumulation
Allison Gregory, Susan J. Hayfl ick
14. Disorders of Movement
Hereditary Ataxias: Susan L. Perlman Hereditary Choreas: Carlos Estevez-Fraga, Juan Carlos Martinez-Castrillo, Pedro J. Garcia-Ruiz Hereditary Dystonia: Belén Pérez-Dueñas, Anna Marcé-Grau, Roser Pons
15. Fever-Associated Seizures and Epilepsies
Laia Nou Fontanet, Jaume Campistol Plana, Alexis Arzimanoglou
16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies
Susana Boronat
17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies
Davide Pareyson, Isabella Moroni
18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies
Teresa Sevilla, Rafael Sivera, Herminia Argente-Escrig
19. Metabolic Myopathies
Pascal Laforêt, Pascale De Lonlay
20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias
Emma Matthews
Product details
Product details
- Edition: 1
- Latest edition
- Published: September 11, 2026
- Language: English
About the editors
About the editors
RK
Robert Kliegman
Affiliations and expertise
Professor and Chair Emeritus, Department of Pediatrics - Medical College of Wisconsin Nelson Undiagnosed and Rare Disease Program, USAFP
Francesc (Paco) Palau
Affiliations and expertise
Editor-in-Chief, Orphanet Journal of Rare Diseases, CSIC Research Professor, and SJD Distinguished Investigator, Sant Joan de Déu Research Institute and Former Head, Department of Genetic and Molecular Medicine, Sant Joan de Déu Children's Hospital, Spain