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Childhood Diseases
A reference to diseases occurring in childhood, covering symptoms, typical age of onset, inherited and acquired causes, diagnostic methods and treatment options.
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A reference to diseases occurring in childhood, covering symptoms, typical age of onset, inherited and acquired causes, diagnostic methods and treatment options.
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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 | TextDisease Severity | TextLife Expectancy Impact |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 1 | Neonatal Respiratory Distress Syndrome (RDS) | Neonatal/Respiratory | ~1% of all births; up to 60% of <28-week preterms | Multifactorial (prematurity) | SFTPB, SFTPC, ABCA3 (rare hereditary forms) | 2p11.2, 8p21.3, 16p13.3 | Tachypnea, grunting, nasal flaring, retractions, cyanosis within hours of birth | Newborn (preterm) | Clinical, CXR (diffuse ground-glass, air bronchograms), blood gases, surfactant studies | Antenatal corticosteroids, exogenous surfactant, CPAP, mechanical ventilation, oxygen | No | P22.0 | 267450 | Respiratory | Severe | Improves with treatment |
| 02 | 2 | Bronchopulmonary Dysplasia (BPD) | Neonatal/Respiratory | ~10,000-15,000 cases/yr (US) | Acquired (preterm sequela) | N/A | N/A | Persistent oxygen need at 36 weeks PMA, tachypnea, retractions, poor weight gain, recurrent infections | Preterm infants | Clinical (oxygen need at 36 wk PMA), CXR, lung function | Oxygen, diuretics, bronchodilators, inhaled steroids, nutrition, RSV prophylaxis | No | P27.1 | N/A | Respiratory | Severe | Variable |
| 03 | 3 | Necrotizing Enterocolitis (NEC) | Neonatal/GI | 1-3 per 1000 live births; ~7% of VLBW infants | Acquired (multifactorial) | N/A | N/A | Feeding intolerance, abdominal distension, bloody stools, lethargy, apnea, shock | Newborn (mostly preterm) | Abdominal X-ray (pneumatosis intestinalis, portal venous gas), CBC, blood gases, blood culture | Bowel rest, NG decompression, broad-spectrum antibiotics, TPN, surgery for perforation | No | P77.9 | N/A | GI | Severe | Reduced (mortality 20-30%) |
| 04 | 4 | Intraventricular Hemorrhage (IVH) of Prematurity | Neonatal/Neurology | ~25% of VLBW infants | Acquired (prematurity) | N/A | N/A | Often asymptomatic; may have sudden deterioration, bulging fontanelle, seizures, anemia, apnea | Newborn (first week of life) | Cranial ultrasound, MRI | Supportive care, blood pressure stabilization, treatment of hydrocephalus (VP shunt) | No | P52.3 | N/A | CNS | Severe | Variable (depends on grade) |
| 05 | 5 | Hypoxic-Ischemic Encephalopathy (HIE) | Neonatal/Neurology | 1-3 per 1000 term births | Acquired (perinatal asphyxia) | N/A | N/A | Depressed consciousness, hypotonia, abnormal reflexes, seizures, multi-organ dysfunction | Newborn | Apgar scores, cord blood gas, EEG, MRI, aEEG | Therapeutic hypothermia (within 6 hr), supportive care, anticonvulsants | No | P91.6 | N/A | CNS | Severe | Reduced (CP risk, mortality) |
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