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• Section I Introductory Chapters1. Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies3. The Approach to Rare Diseases: From Local to GlobalSection II Developmental Structural Disorders4. Epigenetics, Genomic Imprinting, and Imprinting Disorders5. Dysmorphology and Phenotyping6. Ciliary Signaling and Dysmorphology7. Ciliopathies: Clinical Presentations and Syndromes8. Mosaic Overgrowth Syndromes9. Ectodermal Dysplasia10. Heritable Disorders of Connective Tissue11. Genetic Disorders of BoneSection III Neuro-Sensory Disorders12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors13. Neurodegeneration With Brain Iron Accumulation14. Disorders of Movement15. Fever-Associated Seizures and Epilepsies16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies19. Metabolic Myopathies20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias21. Congenital Blindness22. Late-Onset Blindness23. Sensorineural Hearing LossSection IV Cardiopulmonary Disorders24. Interstitial Lung Diseases of Childhood25. Primary Ciliary Dyskinesia26. Pulmonary Alveolar Proteinosis27. 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 Cardiomyopathies29. Congenital/Familial Arrhythmia Syndromes30. Vascular and Lymphatic MalformationsSection V Gastrointestinal and Hepatic Disorders31. Very Early Onset Inflammatory Bowel Disease and Congenital Diarrheal Disorders32. Pediatric Intestinal Pseudo-Obstruction33. Rare Inborn Defects Causing Malabsorption34. Genetic Etiologies of Neonatal and Infantile CholestasisSection VI Renal Disorders35. Congenital Nephrotic Syndromes36. Bartter and Gitelman Syndromes37. Monogenic Etiologies of Hypertension38. Genetic Etiologies of Hemolytic Uremic SyndromeSection VII Endocrine Disorders39. Autoimmune Polyglandular Syndromes and Other Disorders Associated With Immune-Related Endocrinopathies40. Cancer Predisposition Syndromes in Children41. Precocious and Delayed Puberty42. Monogenic Diabetes: MODY and Other Rare Genetic EtiologiesSection VIII Metabolic Disorders43. An Approach to Inborn Errors of Metabolism44. Genetic Disorders of Neurotransmitters45. Metabolic Crisis With Inborn Errors of Metabolism46. Differentiating Features of Storage Diseases47. Congenital Disorders of Glycosylation48. Mitochondrial DisordersSection IX Hematologic Disorders49. Nonimmune Hemolytic Anemias50. Lymphoproliferative Disorders51. Hereditary Bone Marrow Failure Syndromes52. Hereditary Etiologies of ThrombosisSection X Immune/Inflammatory Disorders53. When to Consider a Primary Immune Deficiency Disorder: Pathogens Associated With Specific Immune Defects54. Primary T Cell Immunodeficiencies55. Innate Defects in Host Defenses Against Infections56. Rare and Unusual Etiologies of Atopic Diseases (Eczema, Urticaria)57. Hereditary Autoinflammatory Disorders58. Type I Interferonopathies59. Disorders of Immune Regulation60. Complement Deficiencies61. Antibody DeficienciesIndex

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• Section I Introductory Chapters1. Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies3. The Approach to Rare Diseases: From Local to GlobalSection II Developmental Structural Disorders4. Epigenetics, Genomic Imprinting, and Imprinting Disorders5. Dysmorphology and Phenotyping6. Ciliary Signaling and Dysmorphology7. Ciliopathies: Clinical Presentations and Syndromes8. Mosaic Overgrowth Syndromes9. Ectodermal Dysplasia10. Heritable Disorders of Connective Tissue11. Genetic Disorders of BoneSection III Neuro-Sensory Disorders12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors13. Neurodegeneration With Brain Iron Accumulation14. Disorders of Movement15. Fever-Associated Seizures and Epilepsies16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies19. Metabolic Myopathies20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias21. Congenital Blindness22. Late-Onset Blindness23. Sensorineural Hearing LossSection IV Cardiopulmonary Disorders24. Interstitial Lung Diseases of Childhood25. Primary Ciliary Dyskinesia26. Pulmonary Alveolar Proteinosis27. 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 Cardiomyopathies29. Congenital/Familial Arrhythmia Syndromes30. Vascular and Lymphatic MalformationsSection V Gastrointestinal and Hepatic Disorders31. Very Early Onset Inflammatory Bowel Disease and Congenital Diarrheal Disorders32. Pediatric Intestinal Pseudo-Obstruction33. Rare Inborn Defects Causing Malabsorption34. Genetic Etiologies of Neonatal and Infantile CholestasisSection VI Renal Disorders35. Congenital Nephrotic Syndromes36. Bartter and Gitelman Syndromes37. Monogenic Etiologies of Hypertension38. Genetic Etiologies of Hemolytic Uremic SyndromeSection VII Endocrine Disorders39. Autoimmune Polyglandular Syndromes and Other Disorders Associated With Immune-Related Endocrinopathies40. Cancer Predisposition Syndromes in Children41. Precocious and Delayed Puberty42. Monogenic Diabetes: MODY and Other Rare Genetic EtiologiesSection VIII Metabolic Disorders43. An Approach to Inborn Errors of Metabolism44. Genetic Disorders of Neurotransmitters45. Metabolic Crisis With Inborn Errors of Metabolism46. Differentiating Features of Storage Diseases47. Congenital Disorders of Glycosylation48. Mitochondrial DisordersSection IX Hematologic Disorders49. Nonimmune Hemolytic Anemias50. Lymphoproliferative Disorders51. Hereditary Bone Marrow Failure Syndromes52. Hereditary Etiologies of ThrombosisSection X Immune/Inflammatory Disorders53. When to Consider a Primary Immune Deficiency Disorder: Pathogens Associated With Specific Immune Defects54. Primary T Cell Immunodeficiencies55. Innate Defects in Host Defenses Against Infections56. Rare and Unusual Etiologies of Atopic Diseases (Eczema, Urticaria)57. Hereditary Autoinflammatory Disorders58. Type I Interferonopathies59. Disorders of Immune Regulation60. Complement Deficiencies61. Antibody DeficienciesIndex

Select Guide Rating

• Section I Introductory Chapters1. Finding the Rare Among the Common: Diagnosis, Diagnostic Error, and When to Suspect a Rare Disease2. Diagnostic Methods: Genomics, Omics, Biomarkers, Imaging, and Other Technologies3. The Approach to Rare Diseases: From Local to GlobalSection II Developmental Structural Disorders4. Epigenetics, Genomic Imprinting, and Imprinting Disorders5. Dysmorphology and Phenotyping6. Ciliary Signaling and Dysmorphology7. Ciliopathies: Clinical Presentations and Syndromes8. Mosaic Overgrowth Syndromes9. Ectodermal Dysplasia10. Heritable Disorders of Connective Tissue11. Genetic Disorders of BoneSection III Neuro-Sensory Disorders12. Rare Causes of Autistic Spectrum-Like Disorders and Syndromes With Autistic-Like Behaviors13. Neurodegeneration With Brain Iron Accumulation14. Disorders of Movement15. Fever-Associated Seizures and Epilepsies16. Nonfebrile Epilepsy Syndromes Including Epileptic Encephalopathies17. Hereditary Motor-Sensory Neuropathies or Charcot-Marie-Tooth Disease and Related Neuropathies18. Sensory and Autonomic Neuropathies Including Familial Dysautonomia and Small Fiber Neuropathies19. Metabolic Myopathies20. Skeletal Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias21. Congenital Blindness22. Late-Onset Blindness23. Sensorineural Hearing LossSection IV Cardiopulmonary Disorders24. Interstitial Lung Diseases of Childhood25. Primary Ciliary Dyskinesia26. Pulmonary Alveolar Proteinosis27. 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 Cardiomyopathies29. Congenital/Familial Arrhythmia Syndromes30. Vascular and Lymphatic MalformationsSection V Gastrointestinal and Hepatic Disorders31. Very Early Onset Inflammatory Bowel Disease and Congenital Diarrheal Disorders32. Pediatric Intestinal Pseudo-Obstruction33. Rare Inborn Defects Causing Malabsorption34. Genetic Etiologies of Neonatal and Infantile CholestasisSection VI Renal Disorders35. Congenital Nephrotic Syndromes36. Bartter and Gitelman Syndromes37. Monogenic Etiologies of Hypertension38. Genetic Etiologies of Hemolytic Uremic SyndromeSection VII Endocrine Disorders39. Autoimmune Polyglandular Syndromes and Other Disorders Associated With Immune-Related Endocrinopathies40. Cancer Predisposition Syndromes in Children41. Precocious and Delayed Puberty42. Monogenic Diabetes: MODY and Other Rare Genetic EtiologiesSection VIII Metabolic Disorders43. An Approach to Inborn Errors of Metabolism44. Genetic Disorders of Neurotransmitters45. Metabolic Crisis With Inborn Errors of Metabolism46. Differentiating Features of Storage Diseases47. Congenital Disorders of Glycosylation48. Mitochondrial DisordersSection IX Hematologic Disorders49. Nonimmune Hemolytic Anemias50. Lymphoproliferative Disorders51. Hereditary Bone Marrow Failure Syndromes52. Hereditary Etiologies of ThrombosisSection X Immune/Inflammatory Disorders53. When to Consider a Primary Immune Deficiency Disorder: Pathogens Associated With Specific Immune Defects54. Primary T Cell Immunodeficiencies55. Innate Defects in Host Defenses Against Infections56. Rare and Unusual Etiologies of Atopic Diseases (Eczema, Urticaria)57. Hereditary Autoinflammatory Disorders58. Type I Interferonopathies59. Disorders of Immune Regulation60. Complement Deficiencies61. Antibody DeficienciesIndex