Esophageal atresia
ORPHA:1199Morphological anomalyNot applicableNeonatal
Фенотипы (HPO)60
Очень частый (80–99%)1
HP:0002575Tracheoesophageal fistula
Частый (30–79%)14
HP:0001531Failure to thrive in infancy
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002091Restrictive ventilatory defect
HP:0002205Recurrent respiratory infections
HP:0002579Gastrointestinal dysmotility
HP:0003781Excessive salivation
HP:0006510Chronic pulmonary obstruction
HP:0008872Feeding difficulties in infancy
HP:0010963Absence of stomach bubble on fetal sonography
HP:0012387Bronchitis
HP:0012523Oral aversion
HP:0100326Immunologic hypersensitivity
HP:0100633Esophagitis
Периодический (5–29%)22
HP:0000079Abnormality of the urinary system
HP:0000119Abnormality of the genitourinary system
HP:0000961Cyanosis
HP:0000980Pallor
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0001561Polyhydramnios
HP:0001604Vocal cord paresis
HP:0001607Subglottic stenosis
HP:0002020Gastroesophageal reflux
HP:0002021Pyloric stenosis
HP:0002098Respiratory distress
HP:0002835Aspiration
HP:0003468Abnormal vertebral morphology
HP:0004885Episodic respiratory distress
HP:0008755Laryngotracheomalacia
HP:0012252Abnormal respiratory system morphology
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0012732Anorectal anomaly
HP:0030084Clinodactyly
HP:0030680Abnormal cardiovascular system morphology
HP:0040064Abnormality of limbs
Очень редкий (1–4%)23
HP:0000104Renal agenesis
HP:0000175Cleft palate
HP:0000365Hearing impairment
HP:0000453Choanal atresia
HP:0000589Coloboma
HP:0000598Abnormality of the ear
HP:0000811Abnormal external genitalia
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001680Coarctation of aorta
HP:0001999Abnormal facial shape
HP:0002089Pulmonary hypoplasia
HP:0002247Duodenal atresia
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0002672Gastrointestinal carcinoma
HP:0008751Laryngeal cleft
HP:0009800Maternal diabetes
HP:0100580Barrett esophagus
HP:0410030Cleft lip
Эпидемиология21
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 24.3 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Prevalence at birth | 1-5 / 10 000 | 19.5 | Austria | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17.5 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Croatia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 42.5 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.8 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 23.8 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 26.6 | Hungary | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10.8 | Ireland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.4 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.9 | Malta | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 17.1 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 34.4 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.7 | Poland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.9 | Portugal | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 15.7 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25.1 | Switzerland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.4 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 22.3 | Ukraine | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 21 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)