Osteosclerotic metaphyseal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteosclerotic metaphyseal dysplasia | |
| fr | Dysplasie métaphysaire ostéosclérotique | |
| de | Dysplasie, osteosklerotische metaphysäre | |
| es | Displasia metafisaria osteoesclerótica | |
| it | Displasia metafisaria osteosclerotica | |
| nl | Osteosclerotische metafysaire dysplasie | |
| pt | Displasia metafisária osteosclerótica | |
| pl | Dysplazja przynasadowa osteosklerotyczna | |
| cs | Osteosklerotická metafyzární dysplázie | |
| uk | Остеосклеротична метафізарна дисплазія | |
| zh | 骨硬化性骨骺端发育不良 | |
| tr | Osteosklerotik metafizer displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615198 | NTBT | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | attributed | validated |
| MONDO | 0014080 | E | validated | |
| UMLS | C3554665 | 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:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRRK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18608 | ENSG00000154237 | 610986 | 15q26.3 | leucine rich repeat kinase 1 | 27829680[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 27829680[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27829680[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/500548
- This record as JSON: /data/d/500548.json