Talo-patello-scaphoid osteolysis
Synonyms: Singh-Williams-McAlister syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Talo-patello-scaphoid osteolysis | Singh-Williams-McAlister syndrome |
| fr | Ostéolyse talo-patello-scaphoïde | Syndrome de Singh-Williams-McAlister |
| de | Syndrom der Osteolyse von Talus, Patella und Skaphoid | Singh-Williams-McAlister-Syndrom · Syndrom der Osteolyse von Sprungbein, Kniescheibe und Kahnbein |
| es | Osteólisis de talón-rótula-escafoides | Síndrome de Singh-Williams-McAlister |
| it | Osteolisi talo-rotulo-scafoide | Sindrome di Singh-Williams-McAlister |
| nl | Talo-patello-scafoïdosteolyse | Syndroom van Singh-Williams-McAlister |
| pt | Síndrome de osteólise escafoido-calâneo-rotuliana | Síndrome Singh-Williams-McAlister |
| pl | Osteoliza skokowo-rzepkowo-łódeczkowata | Zespół Singh, Williamsa i McAlistera |
| cs | Talopatelloskafoidální osteolýza | Singhův-Williamsové-McAlisterův syndrom · Singh-Williams-McAlisterův syndrom |
| uk | Тало-пателло-скафоїдний остеоліз | Синдром Сінгха-Вільямса-МакАлістера |
| zh | 距骨-髌骨-舟骨骨质溶解症 | Singh-Williams-McAlister综合症 |
| tr | Talo-patello-skafoid osteoliz | Singh-Williams-McAlister sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609655 | E | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | NTBT | index | validated |
| MONDO | 0012330 | E | validated | |
| UMLS | C4509954 | E | validated | |
| GARD | 10061 | 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:93449Primary osteolysis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 12910489[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12910489[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.
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003037 | Enlarged joints | |
| HP:0006378 | Osteolysis of patellae | |
| HP:0006202 | Osteolysis of scaphoids | |
| HP:0008095 | Osteolysis of talus | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0100769 | Synovitis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 12910489[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50809
- This record as JSON: /data/d/50809.json