Scimitar syndrome
ORPHA:185Malformation syndromeNot applicableAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)39
Частый (30–79%)11
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001635Congestive heart failure
HP:0001651Dextrocardia
HP:0001680Coarctation of aorta
HP:0002088Abnormal lung morphology
HP:0002089Pulmonary hypoplasia
HP:0004971Pulmonary artery hypoplasia
HP:0005345Abnormal vena cava morphology
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)19
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001719Double outlet right ventricle
HP:0001750Single ventricle
HP:0002092Pulmonary arterial hypertension
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0004383Hypoplastic left heart
HP:0010772Anomalous pulmonary venous return
HP:0010773Partial anomalous pulmonary venous return
HP:0011560Mitral atresia
HP:0012382Left-to-right shunt
HP:0012735Cough
HP:0025495Descending aorta hypoplasia
HP:0040044Hypoplasia of the diaphragm
HP:0040045Abnormal hemidiaphragm morphology
HP:0100632Pulmonary sequestration
HP:0100730Bronchogenic cyst
HP:0100790Hernia
Очень редкий (1–4%)9
HP:0000119Abnormality of the genitourinary system
HP:0000925Abnormality of the vertebral column
HP:0001660Truncus arteriosus
HP:0002107Pneumothorax
HP:0011638Anomalous origin of left coronary artery from the pulmonary artery
HP:0011662Tricuspid atresia
HP:0011670Left superior vena cava draining to coronary sinus
HP:0011671Interrupted inferior vena cava with azygous continuation
HP:0012722Heart block
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)