Primary pulmonary hypoplasia
ORPHA:2257Morphological anomalyNeonatal
Фенотипы (HPO)26
Облигатный (100%)1
HP:0002089Pulmonary hypoplasia
Частый (30–79%)7
HP:0000961Cyanosis
HP:0002091Restrictive ventilatory defect
HP:0002104Apnea
HP:0002643Neonatal respiratory distress
HP:0002789Tachypnea
HP:0012418Hypoxemia
HP:0030829Abnormal breath sound
Периодический (5–29%)13
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001651Dextrocardia
HP:0001684Secundum atrial septal defect
HP:0002205Recurrent respiratory infections
HP:0002778Abnormal trachea morphology
HP:0003065Patellar hypoplasia
HP:0040045Abnormal hemidiaphragm morphology
Очень редкий (1–4%)4
HP:0000071Ureteral stenosis
HP:0002099Asthma
HP:0002107Pneumothorax
HP:0030966Abnormal pulmonary artery morphology
Исключён (0%)1
HP:0032094Increased circulating surfactant protein level
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)