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caudal regression-sirenomelia spectrum

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0018639:  caudal regression-sirenomelia spectrum
Orphanet:444941: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found