Congenital pseudoarthrosis of the tibia
Synonyms: Congenital pseudarthrosis of the tibia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pseudoarthrosis of the tibia | Congenital pseudarthrosis of the tibia |
| fr | Pseudoarthrose congénitale du tibia | Pseudarthrose congénitale du tibia |
| de | Pseudarthrose der Tibia, kongenitale | |
| es | Pseudoartrosis congénita de la tibia | |
| it | Pseudoartrosi congenita della tibia | |
| nl | Congenitale pseudoartrose van tibia | Congenitale pseudartrose van tibia · Congenitale pseudoartrose van scheenbeen |
| pt | Pseudoartrose congénita da tíbia | |
| pl | Wrodzony staw rzekomy piszczeli | = en |
| cs | Vrozená pseudoartróza tibie | = en |
| uk | Вроджений псевдоартроз великогомілкової кістки | Вроджений псевдоартроз великогомілкової кістки |
| zh | 先天性胫骨假关节 | 先天性胫骨假关节 |
| tr | Doğumsal tibia psödoartrozu | Tibianın doğumsal psödoartrozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.2 | NTBT | attributed | validated |
| ICD-11 | LB9Y | NTBT | attributed | validated |
| MONDO | 0017462 | E | validated | |
| UMLS | C0265661 | 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:157808Isolated pseudoarthrosis of the limbs
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
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/295018
- This record as JSON: /data/d/295018.json