VANGL1 function has not been fully characterized.

Familial caudal dysgenesis is associated with mutations in the VANGL1 gene on chromosome 1.

Genetic testing for VANGL1 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

34 publications have been identified in PubMed for familial caudal dysgenesis. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (9%).

Recent Publications

• Prakash PR (2026). [PMID: 41209092](https://pubmed.ncbi.nlm.nih.gov/41209092/). *Radiol Case Rep*. [Case Report / Case Series]

• Dinu MD (2026). [PMID: 41975697](https://pubmed.ncbi.nlm.nih.gov/41975697/). *Diagnostics (Basel)*. [Review / Meta-Analysis]

• Alemán-Iñiguez JM (2026). [PMID: 42102406](https://pubmed.ncbi.nlm.nih.gov/42102406/). *J Neurosurg Pediatr*. [Case Report / Case Series]

• Nestler U (2026). [PMID: 41911596](https://pubmed.ncbi.nlm.nih.gov/41911596/). *J Neurosurg Case Lessons*. [Case Report / Case Series]

• Seth S (2025). [PMID: 41479495](https://pubmed.ncbi.nlm.nih.gov/41479495/). *Cureus*. [Case Report / Case Series]

• Macias-Marin O (2025). [PMID: 40446690](https://pubmed.ncbi.nlm.nih.gov/40446690/). *Poult Sci*. [Basic Science / Preclinical]

• Salih I (2025). [PMID: 41556023](https://pubmed.ncbi.nlm.nih.gov/41556023/). *Cureus*. [Case Report / Case Series]

• Khan SA (2025). [PMID: 41113314](https://pubmed.ncbi.nlm.nih.gov/41113314/). *Clin Case Rep*. [Case Report / Case Series]

• Hoodeshenas S (2025). [PMID: 40896075](https://pubmed.ncbi.nlm.nih.gov/40896075/). *Cureus*. [Review / Meta-Analysis]

• Oboshi S (2025). [PMID: 41044996](https://pubmed.ncbi.nlm.nih.gov/41044996/). *Pediatr Int*. [Case Report / Case Series]