Caudal duplication
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Dipygus Split notochord syndrome |
| Number of Symptoms | 16 |
| OrphanetNr: | 1756 |
| OMIM Id: |
607864
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Other syndrome with a central nervous system malformation as major feature
-Rare developmental defect during embryogenesis -Rare neurologic disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000078) | Abnormality of the genital system | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0003762) | Uterus didelphys | 8 / 7739 | ||||
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(HPO:0000073) | Ureteral duplication | 11 / 7739 | ||||
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(HPO:0100599) | Bifid penis | Frequent [Orphanet] | 1 / 7739 | |||
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(HPO:0000069) | Abnormality of the ureter | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0002414) | Spina bifida | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0005107) | Abnormality of the sacrum | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0002475) | Myelomeningocele | Frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0100668) | Intestinal duplication | Frequent [Orphanet] | 2 / 7739 | |||
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(HPO:0002023) | Anal atresia | Occasional [Orphanet] | 135 / 7739 | |||
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(HPO:0001539) | Omphalocele | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0100561) | Spinal cord lesion | Frequent [Orphanet] | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Dominguez et al. (1993) used the term caudal duplication syndrome to describe the occurrence of duplications of different organs in the caudal region. They reported 6 affected patients and reviewed 8 similar previously published cases. Kroes ... |
| Molecular genetics OMIM |
Kroes et al. (2002) noted that 2 genetic mouse models, 'fused' and 'disorganization,' show some resemblance to the caudal duplication anomaly. Because 'fused' results from mutations in the axin gene (603816), they performed DNA analysis of the AXIN1 ... |