VACTERL with hydrocephalus
ORPHA:3412Malformation syndromeAutosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)12
HP:0000104Renal agenesis
HP:0000238Hydrocephalus
HP:0000482Microcornea
HP:0000587Abnormal optic nerve morphology
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0002023Anal atresia
HP:0002032Esophageal atresia
HP:0002410Aqueductal stenosis
HP:0002575Tracheoesophageal fistula
HP:0008678Renal hypoplasia/aplasia
Частый (30–79%)4
HP:0002937Hemivertebrae
HP:0002984Hypoplasia of the radius
HP:0003312Abnormal form of the vertebral bodies
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)17
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000356Abnormality of the outer ear
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0001195Single umbilical artery
HP:0002089Pulmonary hypoplasia
HP:0002139Arrhinencephaly
HP:0002414Spina bifida
HP:0002827Hip dislocation
HP:0009892Anotia
HP:0010305Absence of the sacrum
HP:0011027Abnormality of the fallopian tube
HP:0011267Microtia, third degree
HP:0100541Femoral hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)