Sirenomelia (Q46709): Difference between revisions
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Sirenomelia é uma malformação letal rara caracterizada por graves anomalias da parte caudal do feto que incluem um único membro inferior, com vários graus de envolvimento variando desde um único ou dois fêmures separados no mesmo eixo de pele, presença de dois pés ("sereia" simpódica) ou um pé ("sereia" monopódica), até ausência de ambos os pés ("sereia" ectromélica). Anomalias urogenitais também estão presentes e incluem agenesia renal bilateral, ausência de via de saída e ausência de genitália externa. Ânus imperfurado e agenesia sacrococcígea também foram relatados. Juntas, essas malformações constituem a forma extrema da sequência de regressão caudal. | |||
| description / en | description / en | ||
Sirenomelia is a rare lethal malformation characterised by severe anomalies of the caudal part of the fetus that include a single lower limb, with various degrees of involvement ranging from single to separate femurs in the same skin shaft, presence of two feet (sympode mermaid) or one foot (monopode mermaid), to absence of both feet (ectromelic mermaid). Urogenital anomalies are also present and include bilateral renal agenesis, absence of outflow tract and absence of external genitalia. Imperforate anus and sacro-coccygeal agenesis have also been reported. Together these malformations comprise the extreme form of the caudal regression sequence. | |||
Revision as of 15:29, 13 August 2026
Sirenomelia is a rare lethal malformation characterised by severe anomalies of the caudal part of the fetus that include a single lower limb, with various degrees of involvement ranging from single to separate femurs in the same skin shaft, presence of two feet (sympode mermaid) or one foot (monopode mermaid), to absence of both feet (ectromelic mermaid). Urogenital anomalies are also present and include bilateral renal agenesis, absence of outflow tract and absence of external genitalia. Imperforate anus and sacro-coccygeal agenesis have also been reported. Together these malformations comprise the extreme form of the caudal regression sequence.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2F.12 |
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| English | Sirenomelia |
Sirenomelia is a rare lethal malformation characterised by severe anomalies of the caudal part of the fetus that include a single lower limb, with various degrees of involvement ranging from single to separate femurs in the same skin shaft, presence of two feet (sympode mermaid) or one foot (monopode mermaid), to absence of both feet (ectromelic mermaid). Urogenital anomalies are also present and include bilateral renal agenesis, absence of outflow tract and absence of external genitalia. Imperforate anus and sacro-coccygeal agenesis have also been reported. Together these malformations comprise the extreme form of the caudal regression sequence. |
