loading...| Preferred Name |
Caudal regression syndrome |
|
| Synonyms |
Caudal dysgenesis syndrome |
|
| Definitions |
A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3027 |
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| alternative_term |
Caudal dysgenesis syndrome Caudal regression sequence Caudal dysplasia |
|
| definition |
A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 |
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| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Not applicable Multigenic/multifactorial |
|
| hasDbXref |
MedDRA:10059387 UMLS:C0300948 ICD-10:Q76.0 OMIM:600145 ICD-11:LD2F.1Y |
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| label |
Caudal regression syndrome |
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| notation |
ORPHA:3027 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_645202 http://www.orpha.net/ORDO/Orphanet_268843 |
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| prefixIRI |
ORDO:Orphanet_3027 |
|
| prefLabel |
Caudal regression syndrome |
|
| present_in |
Australia AND has_birth_prevalence_average_value : 1.75 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_645202 http://www.orpha.net/ORDO/Orphanet_268843 |
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| subClassOf |