loading...| Preferred Name |
Sirenomelia |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3169 |
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| definition |
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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 |
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| has_age_of_onset |
Antenatal Neonatal |
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| has_inheritance |
Not applicable |
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| hasDbXref |
ICD-11:LD2F.12 ICD-10:Q87.2 MedDRA:10049216 UMLS:C0037205 OMIM:600145 |
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| label |
Sirenomelia |
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| notation |
ORPHA:3169 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_3169 |
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| prefLabel |
Sirenomelia |
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| present_in |
Canada AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Slovakia AND has_birth_prevalence_average_value : 0.31 AND has_birth_prevalence_range : 1-9 / 1 000 000 Brazil AND has_point_prevalence_average_value : 0.98 AND has_point_prevalence_range : 1-9 / 1 000 000 Italy AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 1.04 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.71 AND has_birth_prevalence_range : 1-9 / 1 000 000 Colombia AND has_birth_prevalence_average_value : 12.0 AND has_birth_prevalence_range : 1-5 / 10 000 Finland AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.54 AND has_birth_prevalence_range : 1-9 / 1 000 000 Latin America AND has_birth_prevalence_average_value : 1.36 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 0.98 AND has_birth_prevalence_range : 1-9 / 1 000 000 Hungary AND has_birth_prevalence_average_value : 0.33 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.79 AND has_birth_prevalence_range : 1-9 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_birth_prevalence_average_value : 0.83 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.74 AND has_birth_prevalence_range : 1-9 / 1 000 000 Mexico AND has_birth_prevalence_average_value : 2.36 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.009 AND has_point_prevalence_range : <1 / 1 000 000 |
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