Fetal alcohol syndrome
ORPHA:1915Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)10
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
HP:0100543Cognitive impairment
HP:0000252Microcephaly
HP:0000275Narrow face
HP:0000506Telecanthus
HP:0000708Atypical behavior
Частый (30–79%)19
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000568Microphthalmia
HP:0000691Microdontia
HP:0001387Joint stiffness
HP:0001631Atrial septal defect
HP:0003196Short nose
HP:0003422Vertebral segmentation defect
HP:0004422Biparietal narrowing
HP:0007477Abnormal dermatoglyphics
HP:0010978Abnormality of immune system physiology
HP:0100335Non-midline cleft of the upper lip
HP:0100761Visceral angiomatosis
HP:0000358Posteriorly rotated ears
Периодический (5–29%)3
HP:0000175Cleft palate
HP:0000776Congenital diaphragmatic hernia
HP:0002230Generalized hirsutism
Эпидемиология16
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14.8 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.1 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Norway | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.2 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | United Kingdom | Value and class |
| Point prevalence | >1 / 1000 | 6800 | South Africa | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.6 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Spain | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 80.8 | Ukraine | 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)