Isolated humero-radial synostosis
historical
Synonyms: Isolated congenital humeroradial fusion
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated humero-radial synostosis | Isolated congenital humeroradial fusion |
| fr | Synostose huméro-radiale isolée | Fusion huméro-radiale congénitale isolée |
| de | Synostose, humero-radiale isolierte | Humeroradiale Fusion, isolierte kongenitale |
| es | Sinostosis húmero-radial aislada | Fusión húmero-radial congénita aislada |
| it | Sinostosi omero-radiale isolata | Fusione omeroradiale isolata congenita |
| nl | Geïsoleerde humeroradiale synostose | Geïsoleerde congenitale humeroradiale fusie |
| pt | Sinostose úmero-radial isolada | Fusão úmero-radial congénita isolada |
| pl | Izolowana synostoza ramienna i promieniowa | Zrost ramienno-promieniowy |
| cs | Humeroradiální synostóza | Humeroradiální fúze |
| uk | Ізольований гумерорадіальний синостоз | Ізольований вроджений плечопроменевий суглоб |
| zh | 肱桡骨融合 | 肱骨-桡骨融合 |
| tr | Humero-radyal sinostoz | Humero-radyal füzyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236400 | E | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB90.1 | E | specific | validated |
| MONDO | 0007737 | E | validated | |
| UMLS | C5925001 | E | validated | |
| GARD | 2748 | 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:295209OBSOLETE: Humero-radial synostosis, unilateral referred to · inactive
- ORPHA:295211OBSOLETE: Humero-radial 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 | 150 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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003070 | Elbow ankylosis | |
| HP:0001376 | Limitation of joint mobility | |
| Frequent (79-30%) | ||
| HP:0003042 | Elbow dislocation | |
| Occasional (29-5%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000612 | Iris coloboma | |
| HP:0002435 | Meningocele | |
| HP:0000252 | Microcephaly | |
| HP:0008368 | Tarsal synostosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3265
- This record as JSON: /data/d/3265.json