Nelson Pediatric Textbook of Rare Diseases
Genomic Etiologies and Genetic Diagnosis
- 1st Edition - July 1, 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, Verbsky, Bacino, Slavotinek, Gropman, and Rahman, 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, make notes and highlights, and have content read aloud. Additional digital ancillary content may publish after 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
2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies
3. The Approach to Rare Diseases: From Local to Global
Section II Developmental Structural Disorders
4. Epigenetics, Genomic Imprinting, and Imprinting Disorders
5. Dysmorphology and Phenotyping
6. Ciliary Signaling and Dysmorphology
7. Ciliopathies: Clinical Presentations and Syndromes
8. Mosaic Overgrowth Syndromes
9. Ectodermal Dysplasia
10. Heritable Disorders of Connective Tissue
11. Genetic Disorders of Bone
Section III Neuro-Sensory Disorders
12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors
13. Neurodegeneration With Brain Iron Accumulation
14. Disorders of Movement
15. Fever-Associated Seizures and Epilepsies
16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies
17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies
18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies
19. Metabolic Myopathies
20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias
21. Congenital Blindness
22. Late-Onset Blindness
23. Sensorineural Hearing Loss
Section IV Cardiopulmonary Disorders
24. Interstitial Lung Diseases of Childhood
25. Primary Ciliary Dyskinesia
26. Pulmonary Alveolar Proteinosis
27. Respiratory and Autonomic Disorders of Infancy, Childhood, and Adulthood (RADICA): Congenital Central Hypoventilation Syndrome (CCHS) and Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)
28. Pediatric Cardiomyopathies
29. Congenital/Familial Arrhythmia Syndromes
30. Vascular and Lymphatic Malformations
Section V Gastrointestinal and Hepatic Disorders
31. Very Early Onset Inflammatory Bowel Disease and Congenital Diarrheal Disorders
32. Pediatric Intestinal Pseudo-Obstruction
33. Rare Inborn Defects Causing Malabsorption
34. Genetic Etiologies of Neonatal and Infantile Cholestasis
Section VI Renal Disorders
35. Congenital Nephrotic Syndromes
36. Bartter and Gitelman Syndromes
37. Monogenic Etiologies of Hypertension
38. Genetic Etiologies of Hemolytic Uremic Syndrome
Section VII Endocrine Disorders
39. Autoimmune Polyglandular Syndromes and Other Disorders Associated With Immune-Related Endocrinopathies
40. Cancer Predisposition Syndromes in Children
41. Precocious and Delayed Puberty
42. Monogenic Diabetes: MODY and Other Rare Genetic Etiologies
Section VIII Metabolic Disorders
43. An Approach to Inborn Errors of Metabolism
44. Genetic Disorders of Neurotransmitters
45. Metabolic Crisis With Inborn Errors of Metabolism
46. Differentiating Features of Storage Diseases
47. Congenital Disorders of Glycosylation
48. Mitochondrial Disorders
Section IX Hematologic Disorders
49. Nonimmune Hemolytic Anemias
50. Lymphoproliferative Disorders
51. Hereditary Bone Marrow Failure Syndromes
52. Hereditary Etiologies of Thrombosis
Section X Immune/Inflammatory Disorders
53. When to Consider a Primary Immune Deficiency Disorder: Pathogens Associated With Specific Immune Defects
54. Primary T Cell Immunodeficiencies
55. Innate Defects in Host Defenses Against Infections
56. Rare and Unusual Etiologies of Atopic Diseases (Eczema, Urticaria)
57. Hereditary Autoinflammatory Disorders
58. Type I Interferonopathies
59. Disorders of Immune Regulation
60. Complement Deficiencies
61. Antibody Deficiencies
1. Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease
2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies
3. The Approach to Rare Diseases: From Local to Global
Section II Developmental Structural Disorders
4. Epigenetics, Genomic Imprinting, and Imprinting Disorders
5. Dysmorphology and Phenotyping
6. Ciliary Signaling and Dysmorphology
7. Ciliopathies: Clinical Presentations and Syndromes
8. Mosaic Overgrowth Syndromes
9. Ectodermal Dysplasia
10. Heritable Disorders of Connective Tissue
11. Genetic Disorders of Bone
Section III Neuro-Sensory Disorders
12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors
13. Neurodegeneration With Brain Iron Accumulation
14. Disorders of Movement
15. Fever-Associated Seizures and Epilepsies
16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies
17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies
18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies
19. Metabolic Myopathies
20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias
21. Congenital Blindness
22. Late-Onset Blindness
23. Sensorineural Hearing Loss
Section IV Cardiopulmonary Disorders
24. Interstitial Lung Diseases of Childhood
25. Primary Ciliary Dyskinesia
26. Pulmonary Alveolar Proteinosis
27. Respiratory and Autonomic Disorders of Infancy, Childhood, and Adulthood (RADICA): Congenital Central Hypoventilation Syndrome (CCHS) and Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)
28. Pediatric Cardiomyopathies
29. Congenital/Familial Arrhythmia Syndromes
30. Vascular and Lymphatic Malformations
Section V Gastrointestinal and Hepatic Disorders
31. Very Early Onset Inflammatory Bowel Disease and Congenital Diarrheal Disorders
32. Pediatric Intestinal Pseudo-Obstruction
33. Rare Inborn Defects Causing Malabsorption
34. Genetic Etiologies of Neonatal and Infantile Cholestasis
Section VI Renal Disorders
35. Congenital Nephrotic Syndromes
36. Bartter and Gitelman Syndromes
37. Monogenic Etiologies of Hypertension
38. Genetic Etiologies of Hemolytic Uremic Syndrome
Section VII Endocrine Disorders
39. Autoimmune Polyglandular Syndromes and Other Disorders Associated With Immune-Related Endocrinopathies
40. Cancer Predisposition Syndromes in Children
41. Precocious and Delayed Puberty
42. Monogenic Diabetes: MODY and Other Rare Genetic Etiologies
Section VIII Metabolic Disorders
43. An Approach to Inborn Errors of Metabolism
44. Genetic Disorders of Neurotransmitters
45. Metabolic Crisis With Inborn Errors of Metabolism
46. Differentiating Features of Storage Diseases
47. Congenital Disorders of Glycosylation
48. Mitochondrial Disorders
Section IX Hematologic Disorders
49. Nonimmune Hemolytic Anemias
50. Lymphoproliferative Disorders
51. Hereditary Bone Marrow Failure Syndromes
52. Hereditary Etiologies of Thrombosis
Section X Immune/Inflammatory Disorders
53. When to Consider a Primary Immune Deficiency Disorder: Pathogens Associated With Specific Immune Defects
54. Primary T Cell Immunodeficiencies
55. Innate Defects in Host Defenses Against Infections
56. Rare and Unusual Etiologies of Atopic Diseases (Eczema, Urticaria)
57. Hereditary Autoinflammatory Disorders
58. Type I Interferonopathies
59. Disorders of Immune Regulation
60. Complement Deficiencies
61. Antibody Deficiencies
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