ORPHA:3248
Isolated distal symphalangism
historical
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated distal symphalangism | |
| fr | Symphalangie distale isolée | |
| de | Symphalangismus, isolierter distaler | |
| es | Sinfalangismo distal aislado | |
| it | Sinfalangismo distale isolato | |
| nl | Geïsoleerd distaal symfalangisme | |
| pt | Sinfalangismo distal isolado | |
| pl | Izolowany dystalny symfalangizm | |
| cs | Distální symfalangismus | |
| uk | Ізольований дистальний симфалангізм | |
| zh | 远端指关节粘连 | |
| tr | Distal simfalanjizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185700 | E | validated | |
| ICD-10 | Q70.9 | NTBT | attributed | validated |
| ICD-11 | LB90.Y | NTBT | index | validated |
| MONDO | 0008509 | E | validated | |
| UMLS | C5925003 | E | validated | |
| GARD | 5074 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 families | Worldwide | Family(ies) | Validated | 3436086[PMID]_2061594[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3436086[PMID]_2061594[PMID] |
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
4 annotations · validated 2017-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0001387 | Joint stiffness | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| Occasional (29-5%) | ||
| HP:0005048 | Synostosis of carpal bones | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3248
- This record as JSON: /data/d/3248.json