Non-syndromic unisquamosal craniosynostosis
Synonyms: Isolated unisquamosal craniosynostosis · Non-syndromic unilateral squamosal suture synostosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic unisquamosal craniosynostosis | Isolated unisquamosal craniosynostosis · Non-syndromic unilateral squamosal suture synostosis |
| fr | Craniosynostose squameuse unilatérale non syndromique | Craniosynostose squameuse unilatérale isolée |
| de | Kraniosynostose, unisquamosale, nicht-syndromale | Isolierte unisquamosale Kraniosynostose · Squamosalnahtsynostose, unilaterale, nicht-syndromale |
| es | Craneosinostosis uniescamosa no sindrómica | Craneosinostosis monoescamosa aislada · Sinostosis de sutura escamosa unilateral no sindrómica |
| it | Craniosinostosi unisquamosanon sindromica | Craniosinostosi isolata unisquamosa · Sinostosi monolaterale della sutura squamosa non sindromica |
| nl | Niet-syndromale unilaterale synostose van sutura squamosa | Geïsoleerde unilaterale craniosynostose van sutura squamosa |
| pt | Craniossinostose uniescamosa não-sindromática | Craniossinostose uniesquamosa isolada · Sinostose da sutura escamosa unilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca szew łuskowy | = en |
| cs | Nesyndromická uniskvamózní kraniosynostóza | = en |
| uk | Несиндромальний унісквамозний краніосиностоз | Ізольований унісквамозний краніосиностоз · Несиндромний односторонній синостоз сквамозного шва |
Definition in:
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 | 0850076 | E | validated | |
| UMLS | C5680400 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:620096Non-syndromic unisutural craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/620146
- This record as JSON: /data/d/620146.json