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Sirenomelia
rareSirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
- Identifiers
- MONDO:0017850 Orphanet:3169
- Part of
- Familial caudal dysgenesis
- Also known as
- Fused legs and feet · mermaid malformation · mermaid syndrome · sirenomelia sequence · Sirenomelus
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