Lower limb hypertrophy
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lower limb hypertrophy | |
| fr | Hypertrophie des membres inférieurs | |
| de | Hypertrophie der unteren Extremitäten | |
| es | Hipertrofia de las extremidades inferiores | |
| it | Ipertrofia degli arti inferiori | |
| nl | Hypertrofie van onderste ledematen | |
| pt | Hipertrofia do membro inferior | |
| pl | Hipertrofia kończyny dolnej | |
| cs | Hypertrofie dolní končetiny | |
| uk | Гіпертрофія нижніх кінцівок | |
| zh | 下肢肥大 | |
| tr | Alt ekstremite hipertrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.2 | NTBT | attributed | validated |
| ICD-11 | LB97.3 | E | specific | validated |
| MONDO | 0017477 | E | validated | |
| UMLS | C0431928 | 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:294953Non-syndromic limb overgrowth
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295051
- This record as JSON: /data/d/295051.json