ORPHA:620205
Non-syndromic bicoronal and sagittal craniosynostosis
Synonyms: Isolated bicoronal and sagittal craniosynostosis · Non-syndromic sagittal and bilateral coronal synostosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of non-syndromic multisutural craniosynostosis characterized by premature fusion of the bicoronal and sagittal sutures.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic bicoronal and sagittal craniosynostosis | Isolated bicoronal and sagittal craniosynostosis · Non-syndromic sagittal and bilateral coronal synostosis |
| fr | Craniosynostose bicoronale et sagittale non syndromique | Craniosynostose bicoronale et sagittale isolée · Craniosynostose coronale bilatérale et sagittale non syndromique |
| de | Kraniosynostose, bikoronale und sagittale, nicht-syndromale | Isolierte bikoronale und sagittale Kraniosynostose · Sagittale und bilaterale koronare Synostose, nicht-syndromale |
| es | Craneosinostosis bicoronal y sagital no sindrómica | Craneosinostosis bicoronal y sagital aislada · Sinostosis sagital y coronal bilateral no sindrómica |
| it | Craniosinostosi bicoronale e sagittale non sindromica | Craniosinostosi isolata bicoronale e sagittale · Sinostosi sagittale e coronale bilaterale non sindromica |
| nl | Niet-syndromale bicoronale en sagittale craniosynostose | Geïsoleerde bicoronale en sagittale craniosynostose · Niet-syndromale sagittale en bilaterale coronale synostose · Niet-syndromale synostose van pijlnaad en bilaterale kroonnaad · Niet-syndromale synostose van sutura sagittalis en bilaterale sutura coronalis |
| pt | Craniossinostose sagital e bicoronal não-sindromática | Craniossinostose sagital e bicoronal isolada · Sinostose sagital e coronal bilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca oba szwy wieńcowe oraz szew strzałkowy | = en |
| cs | Nesyndromická bikoronární a sagitální kraniosynostóza | = en |
| uk | Несиндромальний бікоронарний та сагітальний краніосиностоз | Ізольований бікорональний та сагітальний краніосиностоз · Несиндромний сагітальний та двосторонній коронарний синостоз |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LB70.0Y | NTBT | attributed | validated |
| MONDO | 0850083 | E | validated | |
| UMLS | C5680391 | 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:620152Non-syndromic multisutural craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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 | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/620205
- This record as JSON: /data/d/620205.json