Isolated humero-radio-ulnar synostosis
Synonyms: Isolated congenital humero-radioulnar fusion
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated humero-radio-ulnar synostosis | Isolated congenital humero-radioulnar fusion |
| fr | Synostose huméro-radio-cubitale isolée | Fusion huméro-radio-cubitale · Fusion huméro-radio-ulnaire · Synostose huméro-radio-ulnaire congénitale isolée |
| de | Synostose, humero-radio-ulnare isolierte | Isolierte angeborene humeroradioulnare Fusion |
| es | Sinostosis húmero-radio-cubital aislada | Fusión húmero-radio-cubital congénita aislada |
| it | Sinostosi omero-radio-ulnare isolata | Fusione omero-radio-ulnare isolata congenita |
| nl | Geïsoleerde humeroradio-ulnaire synostose | Geïsoleerde congenitale humeroradio-ulnaire fusie |
| pt | Sinostose úmero-radio-cubital isolada | Fusão úmero-rádio-cubital isolada congénita |
| pl | Izolowana synostoza ramienno-promieniowo-łokciowa | Zrost ramienno-promieniowo-łokciowy |
| cs | Humeroradioulnární synostóza | Humeroradioulnární fúze |
| uk | Ізольований гумерорадіоульнарний синостоз | Ізольоване вроджене гумеро-радіоульнарне зрощення |
| zh | 肱桡尺骨融合 | 肱骨-桡骨-尺骨融合 |
| tr | Humero-radyo-ulnar sinostoz | Humero-radyo-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 | LB90.0 | E | specific | validated |
| MONDO | 0017983 | E | validated | |
| UMLS | C5925002 | E | validated | |
| GARD | 2749 | 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:295205OBSOLETE: Humero-radio-ulnar synostosis, unilateral referred to · inactive
- ORPHA:295207OBSOLETE: Humero-radio-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 | 30 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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0003070 | Elbow ankylosis | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0100560 | Upper limb asymmetry | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3266
- This record as JSON: /data/d/3266.json