ORPHA:295028
Isolated tibio-fibular synostosis
Synonyms: Isolated congenital tibiofibular fusion
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated tibio-fibular synostosis | Isolated congenital tibiofibular fusion |
| fr | Synostose tibio-fibulaire isolée | Fusion tibio-fibulaire congénitale isolée · Fusion tibio-péronière congénitale isolée · Synostose tibio-péronière congénitale isolée |
| de | Tibiofibulare Synostose, isolierte | Isolierte angeborene tibiofibulare Fusion |
| es | Sinostosis tibioperonea aislada | Fusión congénita aislada de tibia-peroné |
| it | Sinostosi tibio-fibulare isolata | Fusione congenita isolata tibio-fibulare |
| nl | Geïsoleerde tibiofibulaire synostose | Geïsoleerde congenitale tibiofibulaire fusie |
| pt | Sinostose tibio-peronial isolada | Fusão tibio-peronial isolada congénita |
| pl | Izolowana synostoza piszczelowo-strzałkowa | Zrost piszczelowo-strzałkowy |
| cs | Tibiofibulární synostóza | Tibiofibulární fúze |
| uk | Ізольований тибіо-фібулярний синостоз | Ізольоване вроджене зрощення великогомілкової кістки |
| zh | 胫腓骨融合 | 胫腓骨融合 |
| tr | Tibio-fibular sinostoz | Tibio-fibular füzyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.2 | NTBT | attributed | validated |
| ICD-11 | LB90.6 | E | specific | validated |
| MONDO | 0017467 | E | validated | |
| UMLS | C5925018 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:294949Non-syndromic joint formation defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295028
- This record as JSON: /data/d/295028.json