Non-syndromic unilambdoid craniosynostosis
Synonyms: Isolated occipital plagiocephaly · Isolated unilamboid craniosynostosis · Non-syndromic posterior synostotic plagiocephaly · Non-syndromic unilateral lambdoid synostosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic unilambdoid craniosynostosis | Isolated occipital plagiocephaly · Isolated unilamboid craniosynostosis · Non-syndromic posterior synostotic plagiocephaly · Non-syndromic unilateral lambdoid synostosis |
| fr | Craniosynostose lambdoïde unilatérale non syndromique | Craniosynostose unilambdoïde non syndromique |
| de | Kraniosynostose, unilambdoidale, nicht-syndromale | Isolierte okzipitale Plagiozephalie · Isolierte unilamboide Kraniosynostose · Posteriore synostotische Plagiozephalie, nicht-syndromale · Unilaterale lambdoidale Synostose, nicht-syndromale |
| es | Craneosinostosis unilambdoidea no sindrómica | Craneosinostosis unilamboidea aislada · Plagiocefalia occipital aislada · Plagiocefalia sinostótica posterior no sindrómica · Sinostosis lambdoidea unilateral no sindrómica |
| it | Craniosinostosi monolambdoidea non sindromica | Craniosinostosi isolata monolambdoidea · Plagiocefalia isolata occipitale · Plagiocefalia sinostotica posteriore non sindromica · Sinostosi lambdoidea monolaterale non sindromica |
| nl | Niet-syndromale unilambdoïde craniosynostose | Geïsoleerde unilambdoïde craniosynostose · Niet-syndromale posterieure synostotische plagiocefalie · Niet-syndromale unilaterale lambdoïde synostose · Niet-syndromale unilaterale synostose van lambdanaad · Niet-syndromale unilaterale synostose van sutura lambdoidea · Geïsoleerde occipitale plagiocefalie |
| pt | Craniossinostose unilambdóide não-sindromática | Craniossinostose unilambdóide isolada · Plagiocefalia occipital isolada · Plagiocefalia sinostótica posterior não-sindromática · Sinostose lambdóide unilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca szew węgłowy | = en |
| cs | Nesyndromická unilambdoidní kraniosynostóza | = en |
| uk | Несиндромальний уніламбдоїдний краніосиностоз | Ізольована потилична плагіоцефалія · Ізольований одноламбідний краніосиностоз · Несиндромна задня синостотична плагіоцефалія · Несиндромний односторонній лямбдоподібний синостоз |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LB70.0Y | NTBT | attributed | validated |
| MONDO | 0850074 | E | validated | |
| UMLS | C5680402 | 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 / 1 000 000 | 0.0442 / 100 000 | Worldwide | Value and class | Validated | 35636659[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/620113
- This record as JSON: /data/d/620113.json