Non-syndromic bicoronal and metopic craniosynostosis
Synonyms: Isolated bicoronal and metopic craniosynostosis · Non-syndromic bilateral coronal and metopic 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 bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic bicoronal and metopic craniosynostosis | Isolated bicoronal and metopic craniosynostosis · Non-syndromic bilateral coronal and metopic suture synostosis |
| fr | Craniosynostose bicoronale et métopique non syndromique | Craniosynostose bicoronale et métopique isolée · Craniosynostose coronale bilatérale et sagittale non syndromique |
| de | Kraniosynostose, bikoronale und metopische, nicht-syndromale | Bilaterale Synostose der koronalen und metopischen Naht, nicht-syndromale · Isolierte bikoronale und metopische Kraniosynostose |
| es | Craneosinostosis bicoronal y metópica no sindrómica | Craneosinostosis bicoronal y metópica aislada · Sinostosis de sutura coronal y metópica bilateral no sindrómica |
| it | Craniosinostosi bicoronale e metopica non sindromica | Craniosinostosi isolata bicoronale e metopica · Sinostosi della sutura metopica e coronale bilaterale non sindromica |
| nl | Niet-syndromale bicoronale en metopische craniosynostose | Geïsoleerde bicoronale en metopische craniosynostose · Niet-syndromale metopische en bilaterale coronale synostose · Niet-syndromale synostose van bilaterale kroonnaad en voorhoofdsnaad · Niet-syndromale synostose van bilaterale sutura coronalis en sutura metopica |
| pt | Craniossinostose metópica e bicoronal não-sindromática | Craniossinostose metópica e bicoronal isolada · Sinostose da sutura metópica e coronal bilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca oba szwy wieńcowe oraz szew czołowy | = en |
| cs | Nesyndromická bikoronární a metopická kraniosynostóza | = en |
| uk | Несиндромальний бікоронарний та метопічний краніосиностоз | Ізольований бікорональний та метопічний краніосиностоз · Несиндромний двосторонній синостоз коронарного та метопічного швів |
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 | 0850082 | E | validated | |
| UMLS | C5680394 | 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/620198
- This record as JSON: /data/d/620198.json