ORPHA:35099
Non-syndromic bicoronal craniosynostosis
Synonyms: Non-syndromic bilateral coronal suture synostosis · Isolated bicoronal craniosynostosis · Isolated synostotic brachycephaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic bicoronal craniosynostosis | Non-syndromic bilateral coronal suture synostosis · Isolated bicoronal craniosynostosis · Isolated synostotic brachycephaly |
| fr | Craniosynostose bicoronale non syndromique | Brachycéphalie synostotique isolée · Craniosynostose bicoronale isolée · Craniosynostose coronale unilatérale non syndromique |
| de | Kraniosynostose, bikoronale, nicht-syndromale | Isolierte bikoronale Kraniosynostose · Isolierte synostotische Brachyzephalie · Nicht-syndromale bilaterale Synostose der Koronarnaht |
| es | Craneosinostosis bicoronal no sindrómica | Braquicefalia sinostótica aislada · Craneosinostosis bicoronal aislada · Sinostosis de la sutura coronal bilateral no sindrómica |
| it | Craniosinostosi bicoronale non sindromica | Brachicefalia isolata · Craniosinostosi bicoronale isolata · Sinostosi non sindromica bilaterale della sutura coronale |
| nl | Niet-syndromale bicoronale craniosynostose | Geïsoleerde bicoronale craniosynostose · Geïsoleerde synostotische brachycefalie · Niet-syndromale bilaterale synostose van kroonnaad · Niet-syndromale bilaterale synostose van sutura coronalis |
| pt | Craniossinostose bicoronal não-sindromática | Braquicefalia sinostótica isolada · Craniossinostose bicoronal isolada · Sinostose da sutura coronal bilateral não-sindromática |
| pl | Brachycefalia izolowana | Niesyndromiczna synostoza dwuwieńcowa |
| cs | Izolovaná brachycefalie | Nesyndromická bikoronární synostóza |
| uk | Несиндромний бікоронарний краніосиностоз | Ізольований бікоронарний краніосиностоз · Ізольована брахіцефалія · Несиндромний двосторонній синостоз коронарного шва |
| zh | 孤立型短头 | 非综合征型双头骨性结合 |
| tr | İzole brakisefali | Sendromik olmayan bikoronal sinostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123100 | BTNT | validated | |
| OMIM | 615314 | NTBT | validated | |
| OMIM | 616602 | BTNT | validated | |
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LB70.0Y | NTBT | index | validated |
| MONDO | 0018114 | E | validated | |
| UMLS | C0221356 | 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 (3):
- ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders - ORPHA:620152Non-syndromic multisutural craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZIC1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:12872 | ENSG00000152977 | 600470 | 3q24 | Zic family zinc finger 1 | 26340333[PMID] |
| TCF12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11623 | ENSG00000140262 | 600480 | 15q21.3 | transcription factor 12 | 23354436[PMID] |
| FGFR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 10914960[PMID] |
| TWIST1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12428 | ENSG00000122691 | 601622 | 7p21.1 | twist family bHLH transcription factor 1 | 17343269[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 77 cases | Worldwide | Case(s) | Validated | 23354436[PMID]_25271085[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23354436[PMID]_25271085[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.
6
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| Frequent (79-30%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000520 | Proptosis | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0009701 | Metacarpal synostosis | |
| HP:0011800 | Midface retrusion | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35099
- This record as JSON: /data/d/35099.json