ORPHA:2777
Osteomesopyknosis
Synonyms: Axial osteosclerosis · Osteomesopycnosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteomesopyknosis | Axial osteosclerosis · Osteomesopycnosis |
| fr | Ostéomésopycnose | Ostéosclérose axiale |
| de | Osteomesopyknose | Osteosklerose, axiale |
| es | Osteomesopicnosis | Osteosclerosis axial |
| it | Osteomesopicnosi | Osteosclerosi assiale |
| nl | Osteomesopycnose | Axiale osteosclerose |
| pt | Osteomesopicnose | Osteosclerose axial |
| pl | Osteoskleroza osiowa | Osteoskleroza osiowa · Osteomezopyknoza |
| cs | Osteomezopyknóza | Axiální osteoskleróza |
| uk | Остеомезопікноз | Аксіальний остеосклероз · Остеомезопікноз |
| zh | 中轴骨硬化 | 轴向骨硬化 |
| tr | Osteomezopiknoz | Aksiyal osteoskleroz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166450 | E | validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | LD24.10 | NTBT | index | validated |
| MONDO | 0008155 | E | validated | |
| MeSH | C537792 | E | validated | |
| UMLS | C0432264 | E | validated | |
| GARD | 391 | 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:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 26185059[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26185059[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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011001 | Increased bone mineral density | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002808 | Kyphosis | |
| HP:0100861 | Sclerotic vertebral body | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2777
- This record as JSON: /data/d/2777.json