Isolated pseudoarthrosis of the limbs
Synonyms: Congenital pseudoarthrosis of the limbs · Isolated congenital pseudarthrosis of the limbs
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated pseudoarthrosis of the limbs | Congenital pseudoarthrosis of the limbs · Isolated congenital pseudarthrosis of the limbs |
| fr | Pseudoarthrose isolée des membres | Pseudarthrose congénitale isolée des membres |
| de | Isolierte Pseudoarthrose der Extremitäten | Isolierte angeborene Pseudarthrose der Gliedmaßen |
| es | Pseudoartritis aislada de las extremidades | Pseudoartrosis congénita aislada de las extremidades · Pseudoartrosis congénita de las extremidades |
| it | Pseudoartrosi isolata degli arti | Pseudoartrosi congenita degli arti · Pseudoartrosi congenita isolata degli arti |
| nl | Geïsoleerde pseudoartrose van ledematen | Congenitale pseudoartrose van ledematen · Geïsoleerde congenitale pseudartrose van ledematen |
| pt | Pseudoartrose dos membros isolada | Pseudoartrose dos membros congénita · Pseudoartrose dos membros isolada congénita |
| pl | Wrodzona pseudoartroza kończyn | = en |
| cs | Vrozená pseudoartróza končetin | = en |
| uk | Ізольований псевдоартроз кінцівок | Вроджений псевдоартроз кінцівок · Ізольований вроджений псевдоартроз кінцівок |
| zh | 先天性四肢假关节病 | 先天性四肢假关节病 |
| tr | Ekstremitelerin doğumsal psödoartrozu | Doğumsal ekstremite psödartrozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0015525 | E | validated | |
| UMLS | C5190522 | 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 (3):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:109011Non-syndromic limb malformation
rare developmental anomalies during embryogenesis; rare genetic diseases
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/157808
- This record as JSON: /data/d/157808.json