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Pediatric Disorders
An overview of disorders affecting infants, children and adolescents, covering symptoms, age of onset, genetic factors, diagnosis, treatment options and health impacts.
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An overview of disorders affecting infants, children and adolescents, covering symptoms, age of onset, genetic factors, diagnosis, treatment options and health impacts.
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130records
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| # | TextID | TextDisease Name | TextCategory | TextPrevalence | TextInheritance Pattern | TextAffected Gene(s) | LocationChromosome Location | TextKey Symptoms | TextTypical Age of Onset | TextDiagnosis Methods | TextAvailable Treatments | TextOrphan Drug Designation | TextICD-10 Code | NumberOMIM Number | TextAffected System(s) | TextDisease Severity | TextLife Expectancy Impact |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 1 | Prematurity / Preterm Birth | Neonatal/Newborn | ~10% of live births in US (~1 in 10); extremely preterm <28 wks ~0.7% | Acquired/Multifactorial | N/A | N/A | Birth before 37 completed weeks gestation; respiratory distress, hypothermia, feeding difficulty, apnea of prematurity, immature organ systems | Prenatal/At birth | Gestational age assessment (LMP, early US, Ballard score), birth weight, clinical exam | Antenatal corticosteroids (betamethasone), magnesium sulfate for neuroprotection, NICU thermoregulation, surfactant, respiratory support, parenteral nutrition | No | P07.30 | N/A | Multisystem (respiratory, CNS, GI, immune) | Variable | Variable — extremely preterm have significant mortality and morbidity risk |
| 02 | 2 | Respiratory Distress Syndrome of Newborn | Neonatal/Newborn | ~24,000 US cases/year; ~50% of infants 26-28 wks, >90% <28 wks | Acquired/Multifactorial | SFTPB, SFTPC, ABCA3 (rare hereditary forms) | 2p11.2 (SFTPB); 8p21.3 (SFTPC); 16p13.3 (ABCA3) | Tachypnea, grunting, nasal flaring, intercostal/subcostal retractions, cyanosis, ground-glass CXR with air bronchograms | Birth to first hours of life | Clinical presentation, chest radiograph (reticulogranular pattern), blood gases, lecithin/sphingomyelin ratio | Exogenous surfactant (poractant alfa, beractant, calfactant), CPAP, mechanical ventilation, oxygen, antenatal steroids | No | P22.0 | 267450 | Respiratory | Severe | Significant if untreated; excellent with modern surfactant therapy |
| 03 | 3 | Transient Tachypnea of the Newborn | Neonatal/Newborn | ~5.7 per 1000 term births; higher after elective cesarean | Acquired/Multifactorial | N/A | N/A | Tachypnea >60/min within 2 hours of birth, mild retractions, nasal flaring, mild cyanosis, self-limited course | First hours of life | Clinical diagnosis of exclusion, CXR (perihilar streaking, fluid in fissures, hyperinflation) | Supportive care, supplemental oxygen, CPAP if needed, monitoring; usually resolves in 24-72 hours | No | P22.1 | N/A | Respiratory | Mild | None — self-limited, excellent prognosis |
| 04 | 4 | Meconium Aspiration Syndrome | Neonatal/Newborn | ~2-9% of meconium-stained amniotic fluid deliveries; declining incidence | Acquired/Multifactorial | N/A | N/A | Respiratory distress, cyanosis, barrel chest, rales/rhonchi, meconium-stained skin/nails, persistent pulmonary hypertension | Birth/First hours of life | Clinical history of meconium-stained fluid, CXR (patchy infiltrates, hyperinflation), hypoxemia, echocardiogram | Endotracheal suctioning if non-vigorous, oxygen, mechanical ventilation, surfactant lavage, iNO, ECMO in severe cases | No | P24.01 | N/A | Respiratory | Severe | Variable — mortality 4-12% in severe disease |
| 05 | 5 | Neonatal Hypoxic-Ischemic Encephalopathy (severe) | Neonatal/Newborn | ~1-8 per 1000 live births in developed countries | Acquired/Multifactorial | N/A | N/A | Severe: coma, flaccid tone, absent primitive reflexes, prolonged seizures, decerebrate posturing, multiorgan dysfunction | At birth | Apgar scores, cord gas (pH <7.0, BE <-12), Sarnat staging, EEG, brain MRI, aEEG | Therapeutic hypothermia (33.5°C for 72h) within 6h of birth, seizure control, supportive care, ventilation | No | P91.63 | N/A | Central nervous system (multisystem) | Critical | Severe — high mortality and severe neurodevelopmental disability in survivors |
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