Acalvaria
Synonyms: Primary acalvaria
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation characterized by the absence of calvarial bones, dura mater and associated muscles while skull base, facial bones and brain structures are normal. Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acalvaria | Primary acalvaria |
| fr | Absence de voûte crânienne | |
| de | Akranie | Akranie, primäre |
| es | Acalvaria | Acalvaria primaria |
| it | Acrania | Agenesia della volta cranica |
| nl | Acalvaria | Primaire acalvaria |
| pt | Acalvaria | Acrania |
| pl | Brak sklepienia czaszki | Bezczaszkowie |
| cs | Akranie | = en |
| uk | Акальварія | Первинна акальварія |
| zh | 无颅骨症 | 原发性无颅骨症 |
| tr | Akalvaria | Primer akalvaria |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q00.0 | NTBT | inclusion | validated |
| ICD-11 | LA00.0Y | NTBT | index | validated |
| MONDO | 0019795 | E | validated | |
| MeSH | C535570 | E | validated | |
| UMLS | C2930936 | E | validated | |
| GARD | 361 | 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:98038Cranial malformation
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| Frequent (79-30%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001362 | Skull defect | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000175 | Cleft palate | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0001539 | Omphalocele | |
| HP:0002414 | Spina bifida | |
| HP:0001883 | Talipes | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/945
- This record as JSON: /data/d/945.json