Non-syndromic unicoronal craniosynostosis
Synonyms: Isolated frontal plagiocephaly · Isolated unicoronal craniosynostosis · Non-syndromic anterior synostotic plagiocephaly · Non-syndromic frontoparietal craniosynostosis · Non-syndromic hemicoronal craniosynostosis · Non-syndromic unilateral coronal 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 one of the two coronal sutures of the newborn, leading to plagiocephaly with flattening of the ipsilateral side of the forehead and a compensatory bulging of the contralateral side. Ocular anomalies (strabismus, hypermetropia, astigmatism) due to orbital dystopia, and ocular torticollis, are commonly associated with in unicoronal craniosynostosis.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic unicoronal craniosynostosis | Isolated frontal plagiocephaly · Isolated unicoronal craniosynostosis · Non-syndromic anterior synostotic plagiocephaly · Non-syndromic frontoparietal craniosynostosis · Non-syndromic hemicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis |
| fr | Craniosynostose coronale unilatérale non syndromique | Craniosynostose coronale unilatérale isolée · Craniosynostose unicoronale non syndromique |
| de | Kraniosynostose, unikoronale, nicht-syndromale | Anteriore synostotische Plagiozephalie, nicht-syndromale · Frontoparietale Kraniosynostose, nicht-syndromale · Hemikoronale Kraniosynostose, nicht-syndromale · Isolierte frontale Plagiozephalie · Isolierte unikoronale Kraniosynostose · Unilaterale koronale Synostose, nicht-syndromale |
| es | Craneosinostosis unicoronal no sindrómica | Craneosinostosis frontoparietal no sindrómica · Craneosinostosis hemicoronal no sindrómica · Craneosinostosis unicoronal aislada · Plagiocefalia frontal aislada · Plagiocefalia sinostótica anterior no sindrómica · Sinostosis coronal unilateral no sindrómica |
| it | Craniosinostosi monocoronale non sindromica | Craniosinostosi emicoronale non sindromica · Craniosinostosi frontoparietale non sindromica · Craniosinostosi monocoronale isolata · Plagiocefalia frontale isolata · Plagiocefalia sinostotica anteriore non sindromica · Sinostosi coronale monolaterale non sindromica |
| nl | Niet-syndromale unicoronale craniosynostose | Geïsoleerde frontale plagiocefalie · Geïsoleerde unicoronale craniosynostose · Niet-syndromale anterieure synostotische plagiocefalie · Niet-syndromale frontopariëtale craniosynostose · Niet-syndromale hemicoronale craniosynostose · Niet-syndromale unilaterale coronale synostose · Niet-syndromale unilaterale synostose van sutura coronalis |
| pt | Craniossinostose unicoronal não-sindromática | Craniossinostose frontoparietal não-sindromática · Craniossinostose hemicoronal não-sindromática · Craniossinostose unicoronal isolada · Plagiocefalia frontal isolada · Plagiocefalia sinostótica anterior não-sindromática · Sinostose coronal unilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca szew wieńcowy | = en |
| cs | Nesyndromická unikoronární kraniosynostóza | = en |
| uk | Несиндромальний унікоронарний краніосиностоз | Ізольована лобова плагіоцефалія · Ізольований однокоронний краніосиностоз · Несиндромна передня синостотична плагіоцефалія · Несиндромний лобно-тімяний краніосиностоз · Несиндромний гемікоронарний краніосиностоз · Несиндромний односторонній коронарний синостоз |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LB70.00 | NTBT | specific | validated |
| MONDO | 0850073 | E | validated | |
| UMLS | C5680401 | 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 | 1-9 / 1 000 000 | 0.1049 / 100 000 | Worldwide | Value and class | Validated | 35636659[PMID]_38348760[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
14 annotations · validated 2024-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:3000030 | Abnormal morphology of bony orbit of skull | |
| HP:0000290 | Abnormality of the forehead | |
| HP:0000646 | Amblyopia | |
| HP:0000483 | Astigmatism | |
| HP:0004484 | Craniofacial asymmetry | |
| HP:0011225 | Epiblepharon | |
| HP:0002007 | Frontal bossing | |
| HP:0000486 | Strabismus | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0012803 | Anisometropia | |
| HP:0000565 | Esotropia | |
| HP:0000577 | Exotropia | |
| HP:0030001 | Lagophthalmos | |
| Very rare (<4-1%) | ||
| HP:0001085 | Papilledema | |
Annotation source: 35207332[PMID]_37762999[PMID]_37834867[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/620102
- This record as JSON: /data/d/620102.json