VACTERL/VATER association
ORPHA:887Malformation syndromeNot applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)5
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0002023Anal atresia
HP:0002777Tracheal stenosis
HP:0006703Aplasia/Hypoplasia of the lungs
Частый (30–79%)9
HP:0000086Ectopic kidney
HP:0000104Renal agenesis
HP:0000776Congenital diaphragmatic hernia
HP:0001601Laryngomalacia
HP:0001671Abnormal cardiac septum morphology
HP:0002575Tracheoesophageal fistula
HP:0003422Vertebral segmentation defect
HP:0006501Aplasia/Hypoplasia of the radius
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)27
HP:0000003Multicystic kidney dysplasia
HP:0000008Abnormal morphology of female internal genitalia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000048Bifid scrotum
HP:0000062Ambiguous genitalia
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000239Large fontanelles
HP:0000772Abnormal rib morphology
HP:0000795Abnormality of the urethra
HP:0001048Cavernous hemangioma
HP:0001177Preaxial hand polydactyly
HP:0001195Single umbilical artery
HP:0001511Intrauterine growth retardation
HP:0001539Omphalocele
HP:0001732Abnormality of the pancreas
HP:0002085Occipital encephalocele
HP:0002323Anencephaly
HP:0005107Abnormal sacrum morphology
HP:0005108Abnormal intervertebral disk morphology
HP:0005264Abnormality of the gallbladder
HP:0006101Finger syndactyly
HP:0008736Hypoplasia of penis
HP:0012732Anorectal anomaly
HP:0100335Non-midline cleft of the upper lip
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6.25 | 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)