Hyperostosis cranialis interna
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperostosis cranialis interna | |
| fr | Hyperostose crânienne interne | |
| de | Hyperostosis cranialis interna | |
| es | Hiperostosis craneal interna | |
| it | Iperostosi interna del cranio | |
| nl | Hyperostosis cranialis interna | |
| pt | Hiperostose craniana interna | |
| pl | Hiperostoza wewnątrzczaszkowa | |
| cs | Nitrolební hyperostóza | Hyperostosis cranialis interna |
| uk | Внутрішній черепний гіперостоз | |
| zh | 内侧颅骨增生 | |
| tr | Hiperostoz kafatası interna |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144755 | E | validated | |
| ICD-10 | M85.2 | NTBT | attributed | validated |
| ICD-11 | FB80.3 | NTBT | attributed | validated |
| MONDO | 0007765 | E | validated | |
| MeSH | C564168 | E | validated | |
| UMLS | C1840404 | 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 (2):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 | 13 cases | Worldwide | Case(s) | Validated | 20140965[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20140965[PMID] |
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/443098
- This record as JSON: /data/d/443098.json