ORPHA:646139
Dysplastic cortical hyperostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysplastic cortical hyperostosis | |
| fr | Hyperostose corticale dysplasique | |
| de | Dysplastische kortikale Hyperostose | |
| es | Hiperostosis cortical displásica | |
| it | Iperostosi corticale displastica | |
| nl | Dysplastische corticale hyperostose | |
| pt | Hiperostose cortical displásica | |
| pl | Dysplastyczna hiperostoza korowa | |
| cs | Dysplastická kortikální hyperostóza | |
| uk | Диспластичний кортикальний гіперостоз |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0016357 | E | validated | |
| UMLS | C5190839 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/646139
- This record as JSON: /data/d/646139.json