ORPHA:3366
Non-syndromic metopic craniosynostosis
Synonyms: Isolated metopic craniosynostosis · Isolated trigonocephaly · Non-syndromic metopic suture synostosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of nonsyndromic craniosynostosis characterized by the premature fusion of the metopic suture.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic metopic craniosynostosis | Isolated metopic craniosynostosis · Isolated trigonocephaly · Non-syndromic metopic suture synostosis |
| fr | Craniosynostose métopique non syndromique | Craniosynostose métopique isolée · Craniosynostose non syndromique de la suture métopique · Trigonocéphalie isolée |
| de | Kraniosynostose, metopische, nicht-syndromale | Isolierte metopische Kraniosynostose · Nicht-syndromale Synostose der metopischen Naht · Trigonozephalie, isolierte |
| es | Craneosinostosis metópica no sindrómica | Craneosinostosis metópica aislada · Sinostosis de la sutura metópica no sindrómica · Trigonocefalia aislada |
| it | Craniosinostosi metopica non sindromica | Craniosinostosi metopica isolata · Sinostosi non sindromica della sutura metopica · Trigonocefalia isolata |
| nl | Niet-syndromale metopische craniosynostose | Geïsoleerde metopische craniosynostose · Geïsoleerde trigonocefalie · Niet-syndromale synostose van sutura metopica · Niet-syndromale synostose van voorhoofdsnaad |
| pt | Craniossinostose metópica não-sindromática | Craniossinostose metópica isolada · Sinostose da sutura metópica não-sindromática · Trigonocefalia isolada |
| pl | Trigonocefalia izolowana | Niesyndromiczna kraniosynostoza czołowa · Niesyndromiczna kraniosynostoza obejmująca szew czołowy |
| cs | Izolovaná trigonocefalie | Nesyndromická metopická kraniosynostóza |
| uk | Несиндромний метопічний краніосиностоз | Ізольований метопічний краніосиностоз · Ізольована тригоноцефалія · Несиндромний синостоз метопічного шва |
| zh | 孤立型三角头畸形 | 非综合征性额缝早闭 |
| tr | İzole trigonosefali | Sendromik olmayan metopik kraniyosinostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190440 | BTNT | validated | |
| OMIM | 614485 | BTNT | validated | |
| ICD-10 | Q75.0 | NTBT | inclusion | validated |
| ICD-11 | LB70.0Y | NTBT | index | validated |
| MONDO | 0018065 | E | validated | |
| UMLS | C0265535 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders - ORPHA:620096Non-syndromic unisutural craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 11173846[PMID] |
| FREM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23399 | ENSG00000164946 | 608944 | 9p22.3 | FRAS1 related extracellular matrix 1 | 21931569[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6.7 / 100 000 | Europe | Value and class | Not yet validated | 21931569[PMID]_19326483[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.2979 / 100 000 | Europe | Value and class | 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.
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HPO phenotypes
12 annotations · validated 2024-07-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011330 | Metopic synostosis | |
| HP:0000243 | Trigonocephaly | |
| Frequent (79-30%) | ||
| HP:0002553 | Highly arched eyebrow | |
| HP:0000601 | Hypotelorism | |
| HP:0000341 | Narrow forehead | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0000664 | Synophrys | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001539 | Omphalocele | |
| Very rare (<4-1%) | ||
| HP:0002516 | Increased intracranial pressure | |
| HP:0001085 | Papilledema | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33351432[PMID]_31568780[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3366
- This record as JSON: /data/d/3366.json