caudal regression-sirenomelia spectrum
MONDO:0018639Mondo
Findings
No curated finding names caudal regression-sirenomelia spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0018639), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (1)