VACTERL/vater association
MONDO:0008642Mondo
Findings
No curated finding names VACTERL/vater association yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0008642), read 2026-09-29. CC BY 4.0.
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anal atresiaHPOHP:0002023
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Premature birthHPOHP:0001622
- Very frequent (80% to 99% of cases)
- Tracheal stenosisHPOHP:0002777
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- Ectopic kidneyHPOHP:0000086
- Frequent (30% to 79% of cases)
- LaryngomalaciaHPOHP:0001601
- Frequent (30% to 79% of cases)
- Renal agenesisHPOHP:0000104
- Frequent (30% to 79% of cases)
Show the remaining 29
- Tracheoesophageal fistulaHPOHP:0002575
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
- Abnormal intervertebral disk morphologyHPOHP:0005108
- Occasional (5% to 29% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Occasional (5% to 29% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Occasional (5% to 29% of cases)
- Abnormal sacrum morphologyHPOHP:0005107
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: VACTERL/vater association
- Also called
- VACTERL AssociationVATER associationvertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome