Sirenomelia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central nervous system, cardiopulmonary, anomalies present. Pelvic, sacral and spinal defects , internal and external genitalia defects, renal agenesis, absent bladder, rectal/anal atresia are commonly described. Most cases are stillborn or die during, or shortly after, birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity, the distinction between sirenomelia and caudal regression syndrome, familial caudal dysgenesis and VACTERL is debated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sirenomelia | |
| fr | Sirénomélie | |
| de | Sirenomelie | |
| es | Sirenomelia | |
| it | Sirenomelia | |
| nl | Sirenomelie | |
| pt | Sirenomelia | |
| pl | Syrenomelia | |
| cs | Sirenomelie | |
| uk | Сиреномелія | |
| zh | 并腿畸形 | |
| tr | Sirenomeli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600145 | NTBT | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD2F.12 | E | specific | validated |
| MONDO | 0017850 | E | validated | |
| UMLS | C0037205 | E | validated | |
| GARD | 7652 | E | validated | |
| MedDRA | 10072457 | 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 (1):
- ORPHA:444941Caudal regression-sirenomelia spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare urogenital diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
19 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.04 / 100 000 | France | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 / 100 000 | Italy | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 / 100 000 | Spain | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.54 / 100 000 | Netherlands | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Finland | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.31 / 100 000 | Slovakia | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.33 / 100 000 | Hungary | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.74 / 100 000 | United States | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Canada | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.83 / 100 000 | China | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.79 / 100 000 | Australia | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.36 / 100 000 | Mexico | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.36 / 100 000 | Latin America | Value and class | Validated | 22002878[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 12 / 100 000 | Colombia | Value and class | Validated | 22030798[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.98 / 100 000 | Worldwide | Value and class | Not yet validated | 22002878[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.01 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.71 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.009 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.98 / 100 000 | Brazil | Value and class | Validated | 35209917[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000079 | Abnormality of the urinary system | |
| HP:0010305 | Absence of the sacrum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002023 | Anal atresia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0010497 | Sirenomelia | |
| Frequent (79-30%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0002414 | Spina bifida | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3169
- This record as JSON: /data/d/3169.json