caudal duplication
Findings
No curated finding names caudal duplication yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
Definition from the Mondo Disease Ontology (MONDO:0011928), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Abnormal penis morphologyHPOHP:0000036
- Frequent (30% to 79% of cases)
- Abnormal sacrum morphologyHPOHP:0005107
- Frequent (30% to 79% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Frequent (30% to 79% of cases)
- Bifid sacrumHPOHP:0009791
- Frequent (30% to 79% of cases)
- Intestinal duplicationHPOHP:0100668
- Frequent (30% to 79% of cases)
- MyelomeningoceleHPOHP:0002475
- Frequent (30% to 79% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Frequent (30% to 79% of cases)
- Spina bifidaHPOHP:0002414
- Frequent (30% to 79% of cases)
- Spinal cord lesionHPOHP:0100561
- Frequent (30% to 79% of cases)
- Ureteral duplicationHPOHP:0000073
- Frequent (30% to 79% of cases)
- Uterus didelphysHPOHP:0003762
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
Show the remaining 3
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- OmphaloceleHPOHP:0001539
- Occasional (5% to 29% of cases)
- Urogenital fistulaHPOHP:0100589
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AXIN1HGNC:903
- Limited · G2P · Autosomal dominant · 2015
Where it sits
Other names
2 names
Resolves to: caudal duplication
- Also called
- dipygussplit notochord syndrome