Lung agenesis-heart defect-thumb anomalies syndrome
ORPHA:1120Malformation syndromeAntenatal
Фенотипы (HPO)27
Очень частый (80–99%)1
HP:0002093Respiratory insufficiency
Частый (30–79%)7
HP:0001522Death in infancy
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001680Coarctation of aorta
HP:0002101Abnormal lung lobation
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0010772Anomalous pulmonary venous return
Периодический (5–29%)19
HP:0000772Abnormal rib morphology
HP:0000776Congenital diaphragmatic hernia
HP:0001172Abnormal thumb morphology
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0001250Seizure
HP:0001646Abnormal aortic valve morphology
HP:0001647Bicuspid aortic valve
HP:0001772Talipes equinovalgus
HP:0002119Ventriculomegaly
HP:0002414Spina bifida
HP:0003422Vertebral segmentation defect
HP:0005180Tricuspid regurgitation
HP:0006695Atrioventricular canal defect
HP:0007598Bilateral single transverse palmar creases
HP:0009623Proximal placement of thumb
HP:0009778Short thumb
HP:0009882Short distal phalanx of finger
HP:0011039Abnormality of the helix
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 9 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)