Iniencephaly
ORPHA:63259Morphological anomalyMultigenic/multifactorial, Not applicableInfancy, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)2
HP:0008905Rhizomelia
HP:0010301Spinal dysraphism
Частый (30–79%)12
HP:0000160Narrow mouth
HP:0000369Low-set ears
HP:0001360Holoprosencephaly
HP:0001543Gastroschisis
HP:0001561Polyhydramnios
HP:0001838Rocker bottom foot
HP:0002323Anencephaly
HP:0002414Spina bifida
HP:0003307Hyperlordosis
HP:0008465Absent vertebrae
HP:0009939Mandibular aplasia
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)17
HP:0000078Abnormality of the genital system
HP:0000104Renal agenesis
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000476Cystic hygroma
HP:0000776Congenital diaphragmatic hernia
HP:0001305Dandy-Walker malformation
HP:0001339Lissencephaly
HP:0001539Omphalocele
HP:0001762Talipes equinovarus
HP:0002023Anal atresia
HP:0002084Encephalocele
HP:0002247Duodenal atresia
HP:0002475Myelomeningocele
HP:0002804Arthrogryposis multiplex congenita
HP:0003396Syringomyelia
HP:0012294Abnormality of the occipital bone
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 50 | 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)