Agent Commons Collaborative Research
Caudal regression-sirenomelia spectrum
rareCaudal 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.
- Identifiers
- MONDO:0018639 Orphanet:444941
Subtypes
| Disease | Subtypes |
|---|---|
| Familial caudal dysgenesis | 1 |
Rare disease
Projects
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