Cloacal exstrophy
ORPHA:93929Clinical subtypeMultigenic/multifactorialInfancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)6
HP:0000056Abnormality of the clitoris
HP:0000076Vesicoureteral reflux
HP:0001539Omphalocele
HP:0002836Bladder exstrophy
HP:0008736Hypoplasia of penis
HP:0010475Cloacal exstrophy
Частый (30–79%)11
HP:0001762Talipes equinovarus
HP:0002023Anal atresia
HP:0002414Spina bifida
HP:0002475Myelomeningocele
HP:0002566Intestinal malrotation
HP:0002827Hip dislocation
HP:0002937Hemivertebrae
HP:0002991Abnormal fibula morphology
HP:0002992Abnormality of tibia morphology
HP:0011301Absent foot
HP:0100668Intestinal duplication
Периодический (5–29%)7
HP:0000070Ureterocele
HP:0000072Hydroureter
HP:0000074Ureteropelvic junction obstruction
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0008678Renal hypoplasia/aplasia
HP:0011027Abnormality of the fallopian tube
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Spain | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.54 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)