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.