ORPHA:63260
Craniorachischisis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniorachischisis | |
| fr | Craniorachischisis | |
| de | Kraniorhachischisis | |
| es | Craneorraquisquisis | |
| it | Craniorachischisi | |
| nl | Craniorachischisis | |
| pt | Cranioraquisquisis | |
| pl | Rozszczep czaszki i kręgosłupa | |
| cs | Kraniorachischíza | Vrozený rozštěp lebečního krytu a páteře |
| uk | Краніорахішизис | |
| zh | 颅脊柱裂 | |
| tr | Kraniyorakiz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q00.1 | E | specific | validated |
| ICD-11 | LA00.00 | E | specific | validated |
| MONDO | 0018969 | E | validated | |
| UMLS | C0152426 | E | validated | |
| GARD | 10504 | E | validated | |
| MedDRA | 10011321 | 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 (1):
- ORPHA:268843Malformation of the neurenteric canal, spinal cord and column
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DACT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17748 | ENSG00000165617 | 607861 | 14q23.1 | dishevelled binding antagonist of beta catenin 1 | 22610794[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002323 | Anencephaly | |
| HP:0005857 | Cervical spina bifida | |
| HP:0002475 | Myelomeningocele | |
| HP:0010301 | Spinal dysraphism | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0010309 | Bifid sternum | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001539 | Omphalocele | |
| HP:0010497 | Sirenomelia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21799625[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63260
- This record as JSON: /data/d/63260.json