Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome | |
| fr | Syndrome de dysplasie épiphysaire multiple-dysplasie fémorale sévère | |
| de | Multiple epiphysäre Dysplasie-schwere proximale Femur-Dysplasie-Syndrom | Syndrom der multiplen epiphysären Dysplasie mit Dysplasie der proximalen Oberschenkelknochen |
| es | Síndrome de displasia epifisaria múltiple-displasia femoral proximal grave | |
| it | Sindrome displasia epifisaria multipla-displasia grave della porzione prossimale del femore | |
| nl | Multipele epifysaire dysplasie - ernstige proximale femorale dysplasie-syndroom | |
| pt | Síndrome de displasia epifisária múltipla-displasia femoral proximal grave | |
| pl | Dysplazja wielonasadowa z ciężką proksymalną dysplazją kości udowej | Zespół dysplazja wielonasadowa – ciężka dysplazja bliższego odcinka kości udowej |
| cs | Mnohočetná epifyzární dysplázie s těžkou proximální dysplázií femuru | |
| uk | Синдром множинної епіфізарної дисплазії-тяжкої дисплазії проксимального відділу стегнової кістки | |
| zh | 多发性骨骺发育不良伴重度股骨近端发育不良 | |
| tr | Ağır proksimal femoral displazi ile seyreden çoklu epifizyel displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609324 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0012253 | E | validated | |
| MeSH | C563736 | E | validated | |
| UMLS | C5924993 | 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 | 3 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/166029
- This record as JSON: /data/d/166029.json