Dysplasia epiphysealis hemimelica
Synonyms: Trevor disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysplasia epiphysealis hemimelica | Trevor disease |
| fr | Dysplasie épiphysaire hémimélique | Maladie de Trevor |
| de | Dysplasia epiphysealis hemimelica | Trevor-Krankheit |
| es | Displasia epifisaria hemimélica | Enfermedad de Trevor |
| it | Displasia epifisaria emimelica | Malattia di Trevor |
| nl | Dysplasia epiphysealis hemimelica | Ziekte van Trevor |
| pt | Displasia epifisária hemimélica | Doença de Trevor |
| pl | Połowicza dysplazja nasadowa | Choroba Trevora |
| cs | Hemimelická epifyzární dysplázie | Trevorova nemoc |
| uk | Епіфізарна дисплазія гемімелічна | Хвороба Тревора |
| zh | 半肢畸形骨骺发育异常 | Trevor病 |
| tr | Displazi epifiziyalis hemimelika | Trevor hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 127800 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0007489 | E | validated | |
| MeSH | C537997 | E | validated | |
| UMLS | C0432282 | E | validated | |
| GARD | 2019 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
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 |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Not yet validated | 13295331[PMID]_29252895[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0100555 | Asymmetric growth | |
| HP:0002653 | Bone pain | |
| HP:0100777 | Exostoses | |
| HP:0010582 | Irregular epiphyses | |
| HP:0001387 | Joint stiffness | |
| HP:0002758 | Osteoarthritis | |
| HP:0001763 | Pes planus | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| Occasional (29-5%) | ||
| HP:0003367 | Abnormal femoral neck morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0008812 | Flattened femoral head | |
| HP:0002757 | Recurrent fractures | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1822
- This record as JSON: /data/d/1822.json