ORPHA:3383
Humerus trochlea hypoplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Humerus trochlea hypoplasia | |
| fr | Hypoplasie de la trochlée de l'humérus | |
| de | Trochlea humeri-Hypoplasie | |
| es | Hipoplasia de la tróclea del húmero | |
| it | Ipoplasia della troclea dell'omero | |
| nl | Hypoplasie van trochlea humeri | Hypoplasie van trochlea van humerus |
| pt | Aplasia da tróclea do úmero | |
| pl | Aplazja bloczka kości ramiennej | |
| cs | Aplázie trochley pažní kosti | |
| uk | Аплазія виростків плечової кістки | |
| zh | 肱骨滑车发育不良 | |
| tr | Humerus troklea aplazisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191000 | E | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| MONDO | 0008611 | E | validated | |
| MeSH | C566022 | E | validated | |
| UMLS | C1860773 | E | validated | |
| GARD | 2750 | 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 (2):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; 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
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.
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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/3383
- This record as JSON: /data/d/3383.json