Non-syndromic unicoronal and sagittal craniosynostosis
Synonyms: Isolated unicoronal and sagittal craniosynostosis · Non-syndromic unilateral coronal and sagittal suture 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 unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic unicoronal and sagittal craniosynostosis | Isolated unicoronal and sagittal craniosynostosis · Non-syndromic unilateral coronal and sagittal suture synostosis |
| fr | Craniosynostose unicoronale et sagittale non syndromique | Craniosynostose unicoronale et sagittale isolée |
| de | Kraniosynostose, unikoronale und sagittale, nicht-syndromale | Isolierte unikoronale und sagittale Kraniosynostose · Unilaterale koronale und sagittale Nahtsynostose, nicht-syndromale |
| es | Craneosinostosis unicoronal y sagital no sindrómica | Craneosinostosis unicoronal y sagital aislada · Sinostosis de sutura coronal y sagital unilateral no sindrómica |
| it | Craniosinostosi monocoronale e sagittale non sindromica | Craniosinostosi isolata monocoronale e sagittale · Sinostosi monolaterale della sutura sagittale e coronale non sindromica |
| nl | Niet-syndromale unicoronale en sagittale craniosynostose | Geïsoleerde unicoronale en sagittale craniosynostose · Niet-syndromale sagittale en unilaterale coronale synostose · Niet-syndromale synostose van unilaterale kroonnaad en pijlnaad · Niet-syndromale synostose van unilaterale sutura coronalis en sutura sagittalis |
| pt | Craniossinostose sagital e unicoronal não-sindromática | Craniossinostose sagital e unicoronal isolada · Sinostose da sutura sagital e coronal unilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca szew węgłowy i strzałkowy | = en |
| cs | Nesyndromická unikoronární a sagitální kraniosynostóza | = en |
| uk | Несиндромальний унікоронарний та сагітальний краніосиностоз | Ізольований однокоронний та сагітальний краніосиностоз · Несиндромний односторонній коронарний та сагітальний шовний синостоз |
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 | 0850080 | E | validated | |
| UMLS | C5680396 | 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:620152Non-syndromic multisutural 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/620186
- This record as JSON: /data/d/620186.json