ORPHA:620158
Non-syndromic non-specific multisutural craniosynostosis
Synonyms: Isolated non-specific multisutural craniosynostosis · Non-syndromic non-specific multiple suture synostosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic non-specific multisutural craniosynostosis | Isolated non-specific multisutural craniosynostosis · Non-syndromic non-specific multiple suture synostosis |
| fr | Craniosynostose multisuturaire non syndromique non spécifique | Craniosynostose multisuturaire isolée non spécifique |
| de | Kraniosynostose, multisuturale unspezifische, nicht-syndromale | Isolierte unspezifische multisuturale Kraniosynostose · Multiple Nahtsynostose, unspezifische, nicht-syndromale |
| es | Craneosinostosis multisutural inespecífica no sindrómica | Craneosinostosis multisutural inespecífica aislada · Sinostosis de múltiples suturas inespecífica no sindrómica |
| it | Craniosinostosi aspecifica multisuturale non sindromica | Craniosinostosi isolata multisuturale aspecifica · Sinostosi aspecifica di diverse suture non sindromica |
| nl | Niet-syndromale aspecifieke multisuturale craniosynostose | Geïsoleerde aspecifieke multisuturale craniosynostose · Niet-syndromale aspecifieke synostose van meerdere schedelnaden |
| pt | Craniossinostose multissutural não-específica não-sindromática | Craniossinostose multissutural não-específica isolada · Sinostose de múltiplas suturas não-específica não-sindromática |
| pl | Niesyndromiczna niespecyficzna kraniosynostoza obejmująca wiele szwów | = en |
| cs | Nesyndromická nespecifikovaná multisuturální kraniosynostóza | = en |
| uk | Несиндромальний неспецифічний краніосиностоз декількох швів | Ізольований неспецифічний мультисуглобовий краніосиностоз · Несиндромний неспецифічний синостоз множинних швів |
2
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 | 0850078 | E | validated | |
| UMLS | C5680398 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:2343OBSOLETE: Isolated cloverleaf skull syndrome referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FUZ | Disease-causing germline mutation(s) in | Assessed | HGNC:26219 | ENSG00000010361 | 610622 | 19q13.33 | fuzzy planar cell polarity protein | 34719684[PMID] |
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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/620158
- This record as JSON: /data/d/620158.json