Caudal regression-sirenomelia spectrum
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caudal regression-sirenomelia spectrum | |
| fr | Spectre régression caudale-sirénomélie | |
| de | Kaudale Regression-Sirenomelie-Spektrum | |
| es | Espectro de regresión caudal-sirenomelia | |
| it | Spettro regressione caudale-sirenomelia | |
| nl | Caudale regressie - sirenomelie-spectrum | |
| pt | Espectro clínico de regressão caudal-sirenomelia | |
| pl | Spektrum regresji kaudalnej i syrenomelii | |
| cs | Spektrum zahrnující kaudální regresi a sirenomelii | |
| uk | Спектр каудальної регресії-сиреномелії | |
| zh | 尾侧蜕化-并肢畸形谱系 | |
| tr | Kaudal regresyon-sirenomeli spektrumu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018639 | E | validated | |
| MONDO | 18639 | E | validated | |
| UMLS | C5681198 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444941
- This record as JSON: /data/d/444941.json