Multiple epiphyseal dysplasia-miniepiphyses syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy
- Status
- active
Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia-miniepiphyses syndrome | |
| fr | Syndrome de dysplasie épiphysaire multiple-miniépiphyses | |
| de | Multiple epiphysäre Dysplasie-Miniepiphysen-Syndrom | Syndrom der multiplen epiphysären Dysplasie mit Miniepiphysen |
| es | Síndrome de displasia epifisaria múltiple-miniepífisis | |
| it | Sindrome displasia epifisaria multipla-miniepifisi | |
| nl | Multipele epifysaire dysplasie - mini-epifysen-syndroom | Meervoudige epifysaire dysplasie - mini-epifysen-syndroom |
| pt | Síndrome de displasia epifisária múltipla-miniepifises | |
| pl | Zespół dysplazji wielonasadowej i mininasad | |
| cs | Mnohočetná epifyzární dysplázie, s miniepifýzou | |
| uk | Синдром множинної епіфізарної дисплазії - мініепіфізів | |
| zh | 多发性骨骺发育不良伴小骨骺 | |
| tr | Miniepifizler ile seyreden çoklu epifiz displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609325 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0012254 | E | validated | |
| MeSH | C563735 | E | validated | |
| UMLS | C5924992 | 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:251Multiple epiphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 2 cases | Worldwide | Case(s) | Validated | 15523498[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15523498[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/166032
- This record as JSON: /data/d/166032.json