Isolated humero-ulnar synostosis
Synonyms: Isolated congenital humeroulnar fusion
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- No data available
- Status
- active
A rare joint formation defect characterized by a bony connection between the humerus and the ulna, resulting in fixed flexion of the forearm, usually near 90°. The condition may be associated with upper limb hypoplasia. It may be sporadic or familial and occur uni- or bilaterally.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated humero-ulnar synostosis | Isolated congenital humeroulnar fusion |
| fr | Synostose huméro-cubitale isolée | Fusion huméro-cubitale congénitale isolée · Fusion huméro-ulnaire congénitale isolée · Fusion ulnohumérale congénitale isolée · Synostose huméro-ulnaire congénitale isolée |
| de | Synostose, humero-ulnare isolierte | Isolierte angeborene humero-ulnare Fusion |
| es | Sinostosis húmero-cubital aislada | Fusión humerocubital congénita aislada |
| it | Sinostosi omero-ulnare isolata | Fusione congenita isolata omero-ulnare |
| nl | Humero-ulnaire synostose | Humero-ulnaire fusie |
| pt | Sinostose umero-cubital isolada | Fusão umero-cubital isolada |
| pl | Izolowana synostoza ramienno-łokciowa | Zrost kości ramiennej i łokciowej |
| cs | Humeroulnární synostóza | Humeroulnární fúze |
| uk | Ізольований гумероульнарний синостоз | Ізольований вроджений плечо-ліктьовий суглоб |
| zh | 肱尺关节骨性融合 | 肱尺关节骨性融合 |
| tr | Humero-ulnar sinostoz | Humero-ulnar füzyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB90.2 | E | specific | validated |
| MONDO | 0019782 | E | validated | |
| UMLS | C5925053 | 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:294949Non-syndromic joint formation defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295213OBSOLETE: Humero-ulnar synostosis, unilateral referred to · inactive
- ORPHA:295215OBSOLETE: Humero-ulnar synostosis, bilateral referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94056
- This record as JSON: /data/d/94056.json