Esophageal atresia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA |
| Number of Symptoms | 2 |
| OrphanetNr: | 1199 |
| OMIM Id: |
189960
|
| ICD-10: |
Q39.0 Q39.1 |
| UMLs: |
C0014850 |
| MeSH: |
D004933 |
| MedDRA: |
10021530 10030146 |
| Snomed: |
204656005 26179002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 24.3 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic esophageal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0002032) | Esophageal atresia | 19 / 7739 | ||||
|
|
(HPO:0002575) | Tracheoesophageal fistula | 54 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Engel et al. (1970) gave the first report of childbearing by a woman who had had correction of esophageal atresia and tracheoesophageal fistula during infancy. The report was of further significance because her child likewise had esophageal atresia ... |
| Molecular genetics OMIM |
In a review, Shaw-Smith (2006) noted that data from twin and family studies had suggested that genetic factors do not play a major role; there are, however, at least 3 genes that had been identified as playing a ... |
| Population genetics OMIM | Shaw-Smith (2006) estimated that esophageal atresia and/or tracheoesophageal fistula occur in approximately 1 in 3,500 births. |