Pentalogy of Cantrell
ORPHA:1335Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)6
HP:0000766Abnormal sternum morphology
HP:0000776Congenital diaphragmatic hernia
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001697Abnormal pericardium morphology
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)2
HP:0001631Atrial septal defect
HP:0002089Pulmonary hypoplasia
Периодический (5–29%)17
HP:0000047Hypospadias
HP:0000104Renal agenesis
HP:0000110Renal dysplasia
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0001171Split hand
HP:0001636Tetralogy of Fallot
HP:0001748Polysplenia
HP:0001883Talipes
HP:0002084Encephalocele
HP:0002323Anencephaly
HP:0002650Scoliosis
HP:0002992Abnormality of tibia morphology
HP:0006501Aplasia/Hypoplasia of the radius
HP:0011467Absent gallbladder
HP:0100335Non-midline cleft of the upper lip
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.55 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)