Non-syndromic bilambdoid and sagittal craniosynostosis
Synonyms: BLSS · Bilateral lambdoid and sagittal synostosis · Isolated sagittal and bilambdoid craniosynostosis · Non-syndromic sagittal and bilateral lambdoid synostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic bilambdoid and sagittal craniosynostosis | BLSS · Bilateral lambdoid and sagittal synostosis · Isolated sagittal and bilambdoid craniosynostosis · Non-syndromic sagittal and bilateral lambdoid synostosis |
| fr | Craniosynostose bilambdoïde et sagittale non syndromique | BLSS · Craniosynostose bilambdoïde et sagittale isolée · Craniosynostose lambdoïde bilatérale et sagittale non syndromique · Synostose sagittale et lambdoïde bilatérale |
| de | Bilaterale Lambdoid- und Sagittalsynostose, nicht-syndromale | BLSS · Bilaterale Lambdoid- und Sagittalsynostose · Isolierte sagittale und bilambdoidale Kraniosynostose · Nicht-syndromale sagittale und bilaterale lambdoidale Synostose |
| es | Craneosinostosis bilambdoidea y sagital no sindrómica | Craneosinostosis sagital y bilambdoidea aislada · Sinostosis lambdoidea bilateral y sagital no sindrómica · Sinostosis lamboidea bilateral y sagital |
| it | Craniosinostosi non sindromica bilambdoidea e sagittale | BLSS · Craniosinostosi sagittale e bilambdoidea isolata · Sinostosi sagittale e lambdoidea bilaterale · Sinostosi sagittale e lambdoidea bilaterale non sindromica |
| nl | Niet-syndromale bilambdoïde en sagittale craniosynostose | BLSS · Bilaterale lambdoïdale en sagittale synostose · Geïsoleerde sagittale en bilambdoïde craniosynostose · Niet-syndromale sagittale en bilaterale lambdoïde synostose · Niet-syndromale synostose van pijlnaad en bilaterale lambdanaad · Niet-syndromale synostose van sutura sagittalis en bilaterale sutura lambdoidea |
| pt | Craniossinostose sagital e bilambdoide não-sindromática | BLSS · Craniossinostose bilambdoide e sagital isolada · Sinostose lambdoide bilateral e sagital não-sindromática · Sinostose sagital e lambdoide bilateral |
| pl | Dyzostoza czaszkowo-twarzowa | Niesyndromiczna kraniosynostoza obejmująca oba szwy węgłowe i szew strzałkowy |
| cs | Kraniofaciální dyssynostóza | = en |
| uk | Несиндромний біламбдоїдний та сагітальний краніосиностоз | Двосторонній лямбдоїдний і сагітальний синостоз · BLSS · Ізольований сагітальний та біламбдоїдний краніосиностоз · Несиндромний сагітальний та двосторонній лямбдоподібний синостоз |
| zh | 颅面骨不连 | 双侧人字缝和矢状缝早闭 |
| tr | Kraniyofasiyal dissinostoz | BLSS · Bilateral lambdoid ve sagital sinostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218350 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MeSH | C536455 | E | validated | |
| UMLS | C1857511 | E | validated | |
| GARD | 1575 | 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
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 15723305[PMID] | |
| Prevalence at birth | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Spain | Value and class | Validated | 15551327[PMID]_[EXPERT] |
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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001363 | Craniosynostosis | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000238 | Hydrocephalus | |
| HP:0000347 | Micrognathia | |
| HP:0000194 | Open mouth | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0000486 | Strabismus | |
| HP:0001537 | Umbilical hernia | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000163 | Abnormal oral cavity morphology | |
| HP:0000286 | Epicanthus | |
| HP:0000324 | Facial asymmetry | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001052 | Nevus flammeus | |
| HP:0000639 | Nystagmus | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000960 | Sacral dimple | |
| HP:0000470 | Short neck | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1516
- This record as JSON: /data/d/1516.json