OSLAM syndrome
historical
Synonyms: Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OSLAM syndrome | Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome |
| fr | Syndrome OSLAM | Syndrome d'ostéosarcome-anomalies des membres-macrocytose érythroïde |
| de | OSLAM-Syndrom | |
| es | Síndrome OSLAM | Osteosarcoma-anomalías de las extremidades-macrocitosis eritroide |
| it | Sindrome OSLAM | Osteosarcoma - anomalie degli arti - macrocitosi eritrocitaria |
| nl | OSLAM-syndroom | Osteosarcoom - ledemaatanomalieën - erytroïde macrocytose-syndroom |
| pt | Síndrome OSLAM | Síndrome osteossarcoma-anomalias dos membros-macrocitose eritróide |
| pl | Zespół OSLAM | Kostniakomięsak - wady kończyn - makrocytoza krwinek czerwonych |
| cs | OSLAM syndrom | Syndrom zahrnující osteosarkom, anomálie koncetin a erytroidní makrocyty · Syndrom zahrnující osteosarkom, anomálie končetin a erytroidní makrocyty |
| uk | Синдром OSLAM | Синдром остеосаркоми - аномалії кінцівок - еритроїдного макроцитозу |
| zh | OSLAM综合征 | 骨肉瘤-肢体异常-大红细胞综合征 |
| tr | OSLAM sendromu | Osteosarkom-ekstremite anomalileri-eritroid makrositoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165660 | E | validated | |
| ICD-10 | C41.9 | NTBT | attributed | validated |
| MONDO | 0008139 | E | validated | |
| MeSH | C537138 | E | validated | |
| UMLS | C1833792 | E | validated | |
| GARD | 4129 | 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 (3):
- ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases - ORPHA:93459Syndrome with synostosis or other joint formation defect
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 | 3 cases | Worldwide | Case(s) | Validated | 201363[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_201363[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001874 | Abnormality of neutrophils | |
| HP:0000670 | Carious teeth | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0002669 | Osteosarcoma | |
| Frequent (79-30%) | ||
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002974 | Radioulnar synostosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2760
- This record as JSON: /data/d/2760.json