ORPHA:1756
Caudal duplication
Synonyms: Dipygus · Split notochord syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caudal duplication | Dipygus · Split notochord syndrome |
| fr | Duplication caudale | Dipygus · Syndrome de la chorde dorsale fendue |
| de | Duplikation, kaudale | Dipygus · Split notochord-Syndrom · Syndrom des 'Doppelstei' · Syndrom des 'Doppelsteiß' |
| es | Duplicación caudal | Dipigo · Síndrome de notocorda dividida |
| it | Duplicazione caudale | Dipigo · Sindrome da schisi della notocorda |
| nl | Caudale duplicatie | Dipygus · Gespleten chorda dorsalis-syndroom |
| pt | Duplicação caudal | Dipigo · Síndrome fenda do notocórdio |
| pl | Zdwojenie kaudalne | Dipygus · Zespół rozszczepionej struny grzbietowej |
| cs | Kaudální duplikace | Dipygus · Syndrom rozštěpení notochordu |
| uk | Каудальна дуплікація | Дипігус · Синдром розщеплення нотохорда |
| zh | 尾重复综合症 | 脊索分裂综合征 |
| tr | Kaudal duplikasyon | Dipigus · Bölünmüş notokord sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607864 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011928 | E | validated | |
| UMLS | C0266688 | E | validated | |
| GARD | 1164 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000036 | Abnormality of the penis | |
| HP:0009791 | Bifid sacrum | |
| HP:0100668 | Intestinal duplication | |
| HP:0002475 | Myelomeningocele | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002414 | Spina bifida | |
| HP:0100561 | Spinal cord lesion | |
| HP:0000073 | Ureteral duplication | |
| HP:0003762 | Uterus didelphys | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0001539 | Omphalocele | |
| HP:0100589 | Urogenital fistula | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1756
- This record as JSON: /data/d/1756.json