X-linked calvarial hyperostosis
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked calvarial hyperostosis | |
| fr | Hyperostose de la voûte crânienne liée à l'X | |
| de | X-chromosomale Hyperostose der Schädelkalotte | |
| es | Hiperostosis calvaria ligada al cromosoma X | |
| it | Iperostosi del cuoio capelluto legata all'X | |
| nl | X-gebonden hyperostose van calvaria | X-gebonden hyperostose van schedeldak |
| pt | Hiperostose calvária, ligada ao cromossoma X | |
| pl | Hiperostoza sklepienia czaszki sprzężona z chromosomem X | |
| cs | X-vázaná hyperostóza lebky | |
| uk | Х-зчеплений гіперостоз пяткової кістки | |
| zh | X连锁颅骨骨质增生症 | |
| tr | X'e bağlı kalvaryal hiperostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302030 | E | validated | |
| ICD-10 | M85.2 | NTBT | attributed | validated |
| ICD-11 | FB80.3 | NTBT | attributed | validated |
| MONDO | 0010541 | E | validated | |
| UMLS | C5190611 | E | validated | |
| GARD | 1058 | 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:93444Primary bone dysplasia with increased bone density
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 24145306[PMID] | |
| 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/391327
- This record as JSON: /data/d/391327.json