Non-syndromic unifrontosphenoidal craniosynostosis
Synonyms: Isolated unifrontosphenoidal craniosynostosis · Isolated unilateral sphenofrontal suture synostosis · Non-syndromic unilateral frontosphenoidal 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 the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic unifrontosphenoidal craniosynostosis | Isolated unifrontosphenoidal craniosynostosis · Isolated unilateral sphenofrontal suture synostosis · Non-syndromic unilateral frontosphenoidal suture synostosis |
| fr | Craniosynostose frontosphénoïdale unilatérale non syndromique | Craniosynostose frontosphénoïdale unilatérale isolée |
| de | Kraniosynostose, unifrontosphenoidale, nicht-syndromale | Isolierte unifrontosphenoidale Kraniosynostose · Isolierte unilaterale Synostose der Sphenofrontalnaht · Unilaterale frontosphenoidale Nahtsynostose, nicht-syndromale |
| es | Craneosinostosis unifrontoesfenoidal no sindrómica | Craneosinostosis unifrontoesfenoidal aislada · Sinostosis de sutura esfenofrontal unilateral aislada · Sinostosis de sutura frontoesfenoidal unilateral no sindrómica |
| it | Craniosinostosi mono-fronto-sfenoidale non sindromica | Craniosinostosi mono-fronto-sfenoidale isolata · Sinostosi isolata monolaterale della sutura sfeno-frontale · Sinostosi monolaterale della sutura fronto-sfenoidale non sindromica |
| nl | Niet-syndromale unilaterale craniosynostose van sutura sphenofrontalis | Geïsoleerde unilaterale craniosynostose van sutura sphenofrontalis · Geïsoleerde unilaterale synostose van sutura sphenofrontalis · Niet-syndromale unilaterale synostose van sutura sphenofrontalis |
| pt | Craniossinostose unifrontoesfenoidal não-sindromátca | Craniossinostose unifrontoesfenoidal isolada · Sinostose da sutura esfenofrontal unilateral isolada · Sinostose da sutura frontoesfenoidal unilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca szew klinowo-czołowy | = en |
| cs | Nesyndromická unifrontosfenoidální kraniosynostóza | = en |
| uk | Несиндромальний уніфронтосфеноїдальний краніосиностоз | Ізольований уніфронтосфеноїдальний краніосиностоз · Ізольований односторонній синостоз сфенофронтального шва · Несиндромний односторонній синостоз лобно-скроневого 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 | 0850075 | E | validated | |
| UMLS | C5680399 | 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 | 0.0136 / 100 000 | Worldwide | Value and class | Validated | 29065043[PMID]_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/620139
- This record as JSON: /data/d/620139.json