ORPHA:2485
Melorheostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melorheostosis | |
| fr | Mélorhéostose | |
| de | Melorheostose | |
| es | Melorreostosis | |
| it | Meloreostosi | |
| nl | Meloreostose | |
| pt | Melorreostose | |
| pl | Choroba Leriego | |
| cs | Melorheostóza | |
| uk | Мелореостоз | |
| zh | 肢骨纹状肥大症 | |
| tr | Meloreostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155950 | E | validated | |
| ICD-10 | M85.8 | NTBT | index | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007970 | E | validated | |
| MeSH | D008557 | E | validated | |
| UMLS | C0025239 | E | validated | |
| GARD | 9474 | E | validated | |
| MedDRA | 10050284 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Europe | Value and class | Validated | 9040882[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.
6
HPO phenotypes
17 annotations · validated 2017-12-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0011987 | Ectopic ossification in muscle tissue | |
| HP:0001508 | Failure to thrive | |
| HP:0100774 | Hyperostosis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001387 | Joint stiffness | |
| HP:0001004 | Lymphedema | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0100559 | Lower limb asymmetry | |
| HP:0100560 | Upper limb asymmetry | |
| Occasional (29-5%) | ||
| HP:0001369 | Arthritis | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0100784 | Peripheral arteriovenous fistula | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2485
- This record as JSON: /data/d/2485.json