Non-syndromic bilambdoid craniosynostosis
Synonyms: Isolated bilambdoid craniosynostosis · Isolated pachycephaly · Non-syndromic bilateral lambdoid synostosis
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of non-syndromic multisutural craniosynostosis characterized by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic bilambdoid craniosynostosis | Isolated bilambdoid craniosynostosis · Isolated pachycephaly · Non-syndromic bilateral lambdoid synostosis |
| fr | Craniosynostose lambdoïde bilatérale non syndromique | Craniosynostose bilambdoïde non syndromique · Craniosynostose lambdoïde bilatérale isolée |
| de | Kraniosynostose, bilambdoide, nicht-syndromale | Bilaterale lambdoidale Synostose, nicht-syndromale · Isolierte Pachyzephalie · Isolierte bilambdoide Kraniosynostose |
| es | Craneosinostosis bilambdoidea no sindrómica | Craneosinostosis bilambdoidea aislada · Paquicefalia aislada · Sinostosis lambdoidea bilateral no sindrómica |
| it | Craniosinostosi lambdoidea bilaterale non sindromica | Craniosinostosi lambdoidea isolata · Craniosinostosi lambdoidea non sindromica · Pachicefalia isolata |
| nl | Niet-syndromale bilambdoïde craniosynostose | Geïsoleerde bilambdoïde craniosynostose · Geïsoleerde pachycefalie · Niet-syndromale bilaterale lambdoïde synostose · Niet-syndromale bilaterale synostose van lambdanaad · Niet-syndromale bilaterale synostose van sutura lambdoidea |
| pt | Craniossinostose bilambdóide não-sindromática | Craniossinostose bilambdóide isolada · Paquicefalia isolada · Sinostose lambdóide bilateral não-sindromática |
| pl | Niesyndromiczna kraniosynostoza obejmująca oba szwy węgłowe | = en |
| cs | Nesyndromická bilambdoidní kraniosynostóza | = en |
| uk | Несиндромальний біламбдоїдний краніосиностоз | Ізольований біламбдоїдний краніосиностоз · Ізольована пахіцефалія · Несиндромний двосторонній 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 | 0850079 | E | validated | |
| UMLS | C5680395 | 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/620178
- This record as JSON: /data/d/620178.json