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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.
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning caudal regression-sirenomelia spectrum
Updated May 1, 2026
A review of European prevalence data highlights 17 cases of sirenomelia registered in Wales, contributing to the understanding of this rare condition. This analysis may inform future research and clinical approaches to managing sirenomelia.