ORPHA:1199
Esophageal atresia
Synonyms: CEA · Congenital esophageal atresia · EA/TEF · Esophageal atresia with or without trachea-esophageal fistula · Oesophageal atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Esophageal atresia | CEA · Congenital esophageal atresia · EA/TEF · Esophageal atresia with or without trachea-esophageal fistula · Oesophageal atresia |
| fr | Atrésie de l'oesophage | |
| de | Ösophagusatresie | CEA · EA/TEF · Kongenitale Ösophagusatresie · Speiseröhrenatresie · Ösophagusatresie mit oder ohne Trachea-Ösophagus-Fistel |
| es | Atresia esofágica | Atresia esofágica con o sin fístula traqueoesofágica · Atresia esofágica congénita · AE/FTE · Atresia de esófago |
| it | Atresia esofagea | Atresia dell'esofago · Atresia esofagea con o senza fistola tracheo-esofagea · Atresia esofagea congenita · CEA · EA/TEF |
| nl | Atresie van oesofagus | Atresie van slokdarm · CEA · Congenitale oesofageale atresie · EA/TEF · Oesofageale atresie · Oesofageale atresie met of zonder trachea-oesofageale fistel |
| pt | Atresia esofágica | Atresia esofágica com ou sem fistula traqueo-esofágica · Atresia esofágica congénita · CEA · EA/TEF |
| pl | Atrezja przełyku | = en |
| cs | Atrézie jícnu | = en |
| uk | Атрезія стравоходу | CEA · Вроджена атрезія стравоходу · EA/TEF · Атрезія стравоходу з трахео-стравохідною норицею або без неї · Атрезія стравоходу |
| zh | 食管闭锁 | |
| tr | Özofagus atrezisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 189960 | E | validated | |
| ICD-10 | Q39.0 | BTNT | specific | validated |
| ICD-10 | Q39.1 | BTNT | specific | validated |
| ICD-11 | LB12.1 | E | specific | validated |
| MeSH | D004933 | E | validated | |
| UMLS | C0014850 | E | validated | |
| GARD | 6381 | E | validated | |
| MedDRA | 10030146 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:108959Non-syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:2042OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
21 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 24.3 / 100 000 | Europe | Value and class | Validated | 22247246[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | 22247246[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.5 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.5 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 42.5 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.8 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 23.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 26.6 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.8 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.4 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 24.9 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 17.1 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 34.4 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.7 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.9 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 15.7 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.1 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.4 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.3 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21 / 100 000 | United States | Value and class | Validated | 8013895[PMID]_15826889[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
60 annotations · validated 2019-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002575 | Tracheoesophageal fistula | |
| Frequent (79-30%) | ||
| HP:0010963 | Absence of stomach bubble on fetal sonography | |
| HP:0012387 | Bronchitis | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0002015 | Dysphagia | |
| HP:0100633 | Esophagitis | |
| HP:0003781 | Excessive salivation | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0012523 | Oral aversion | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0012252 | Abnormal respiratory system morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0012732 | Anorectal anomaly | |
| HP:0002835 | Aspiration | |
| HP:0030084 | Clinodactyly | |
| HP:0000961 | Cyanosis | |
| HP:0004885 | Episodic respiratory distress | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0000980 | Pallor | |
| HP:0001561 | Polyhydramnios | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002098 | Respiratory distress | |
| HP:0001518 | Small for gestational age | |
| HP:0001607 | Subglottic stenosis | |
| HP:0001604 | Vocal cord paresis | |
| Very rare (<4-1%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000598 | Abnormality of the ear | |
| HP:0100580 | Barrett esophagus | |
| HP:0000453 | Choanal atresia | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000589 | Coloboma | |
| HP:0002247 | Duodenal atresia | |
| HP:0002672 | Gastrointestinal carcinoma | |
| HP:0000365 | Hearing impairment | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0008751 | Laryngeal cleft | |
| HP:0009800 | Maternal diabetes | |
| HP:0001539 | Omphalocele | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000104 | Renal agenesis | |
| HP:0002650 | Scoliosis | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31000707[PMID]_17498283[PMID]_20301753[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1199
- This record as JSON: /data/d/1199.json