Non-syndromic metopic and sagittal craniosynostosis
Synonyms: Isolated metopic and sagittal craniosynostosis · Non-syndromic metopic 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 metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic metopic and sagittal craniosynostosis | Isolated metopic and sagittal craniosynostosis · Non-syndromic metopic and sagittal suture synostosis |
| fr | Craniosynostose métopique et sagittale non syndromique | Craniosynostose métopique et sagittale isolée |
| de | Kraniosynostose, metopische und sagittale, nicht-syndromale | Isolierte metopische und sagittale Kraniosynostose · Metopische und sagittale Nahtsynostose, nicht-syndromale |
| es | Craneosinostosis metópica y sagital no sindrómica | Craneosinostosis metópica y sagital aislada · Sinostosis de sutura metópica y sagital no sindrómica |
| it | Craniosinostosi metopica e sagittale non sindromica | Craniosinostosi isolata metopica e sagittale · Sinostosi della sutura metopica e sagittale non sindromica |
| nl | Niet-syndromale metopische en sagittale craniosynostose | Geïsoleerde metopische en sagittale craniosynostose · Niet-syndromale synostose van sutura metopica en sutura sagittalis · Niet-syndromale synostose van voorhoofdsnaad en pijlnaad |
| pt | Craniossinostose sagital e metópica não-sindromática | Craniossinostose sagital e metópica isolada · Sinostose da sutura sagital e metópica não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca szew czołowy i strzałkowy | = en |
| cs | Nesyndromická metopická a sagitální kraniosynostóza | = en |
| uk | Несиндромальний метопічний та сагітальний краніосиностоз | Ізольований метопічний та сагітальний краніосиностоз · Несиндромний метопічний та сагітальний синостоз 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 | 0850081 | E | validated | |
| UMLS | C5680393 | 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/620192
- This record as JSON: /data/d/620192.json