Multiple epiphyseal dysplasia
Synonyms: EDM · MED · Polyepiphyseal dysplasia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia | EDM · MED · Polyepiphyseal dysplasia |
| fr | Dysplasie épiphysaire multiple | Dysplasie polyépiphysaire |
| de | Dysplasie, epiphysäre multiple | Dysplasie, polyepiphysäre · EDM · MED |
| es | Displasia epifisaria múltiple | Displasia poliepifisaria · EDM · MED |
| it | Displasia epifisaria multipla | Displasia poliepifisaria |
| nl | Multipele epifysaire dysplasie | EDM · MED · Polyepifysaire dysplasie |
| pt | Displasia epifisária múltipla | Displasia poliepifisária |
| pl | Dysplazja wielonasadowa | Dysplazja wielonasadowa · EDM · MED |
| cs | Mnohočetná epifyzární dysplázie | Polyepifyzární dysplázie |
| uk | Множинна епіфізарна дисплазія | EDM · MED · Поліепіфізарна дисплазія |
| zh | 多发性骨骺发育不良 | 骨骺发育不良 |
| tr | Çoklu epifizyal displazi | EDM · MED · Poliepifizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.61 | E | specific | validated |
| MONDO | 0016648 | E | validated | |
| MONDO | 16648 | E | validated | |
| UMLS | C0026760 | E | validated | |
| GARD | 10756 | E | validated | |
| MedDRA | 10028197 | 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:93429Multiple epiphyseal dysplasia and pseudoachondroplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (9):
- ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly
- ORPHA:93308Multiple epiphyseal dysplasia type 1
- ORPHA:93307Multiple epiphyseal dysplasia type 4
- ORPHA:93311Multiple epiphyseal dysplasia type 5
- ORPHA:647676Multiple epiphyseal dysplasia type 7
- ORPHA:166016Multiple epiphyseal dysplasia, Lowry type
- ORPHA:166024Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
- ORPHA:166032Multiple epiphyseal dysplasia-miniepiphyses syndrome
- ORPHA:166029Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:93313OBSOLETE: Multiple epiphyseal dysplasia, unclassified type referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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/251
- This record as JSON: /data/d/251.json