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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.
Features include: Triphalangeal thumb, Anal atresia, Tethered cord, and Single umbilical artery and 33 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 3 | Ectopic kidney, Renal dysplasia, Renal agenesis |
Growth and development |
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for VACTERL/vater association.
74 publications have been identified in PubMed for VACTERL/vater association. Research spans Case Report / Case Series (55%), Epidemiology / Natural History (24%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 41 | 55% |
Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 8:16 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about VACTERL/vater association
3 |
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation |
Bones and joints | 2 | Abnormal vertebral morphology, Sideways curvature of the spine (scoliosis) |
Heart and blood vessels | 1 | Ventricular septal defect |
Digestive system | 1 | Esophageal atresia |
Age of onset: before birth.
18 |
24% |
Research summaries | 7 | 9% |
Laboratory research | 4 | 5% |
Other research | 3 | 4% |
New treatment approaches | 1 | 1% |
Tark JY (2026). [PMID: 41432111](https://pubmed.ncbi.nlm.nih.gov/41432111/). *Am J Med Genet A*. [Epidemiology / Natural History]
Abaji M (2026). [PMID: 41862411](https://pubmed.ncbi.nlm.nih.gov/41862411/). *Prenat Diagn*. [Case Report / Case Series]
Tanaka K (2026). [PMID: 41492847](https://pubmed.ncbi.nlm.nih.gov/41492847/). *Pediatr Int*. [Epidemiology / Natural History]
Ünver G (2026). [PMID: 41841538](https://pubmed.ncbi.nlm.nih.gov/41841538/). *Ceska Gynekol*. [Review / Meta-Analysis]
Leshchynska I (2026). [PMID: 41851260](https://pubmed.ncbi.nlm.nih.gov/41851260/). *Eur J Hum Genet*. [Case Report / Case Series]
Tsurho V (2026). [PMID: 41038431](https://pubmed.ncbi.nlm.nih.gov/41038431/). *Dev Biol*. [Basic Science / Preclinical]
Thambar S (2026). [PMID: 39503249](https://pubmed.ncbi.nlm.nih.gov/39503249/). *Orthod Craniofac Res*. [Epidemiology / Natural History]
Tian T (2026). [PMID: 41972029](https://pubmed.ncbi.nlm.nih.gov/41972029/). *Quant Imaging Med Surg*. [Other]
Huang TP (2026). [PMID: 41769714](https://pubmed.ncbi.nlm.nih.gov/41769714/). *Kaohsiung J Med Sci*. [Other]
Altintas B (2026). [PMID: 41017074](https://pubmed.ncbi.nlm.nih.gov/41017074/). *Clin Genet*. [Case Report / Case Series]