Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome | |
| fr | Syndrome de dysplasie spondylo-métaphysaire-avant-bras incurvé-dysmorphie faciale | |
| de | Spondyloepimetaphysäre Dysplasie-gebogene Unterarme-Gesichtsdysmorphien-Syndrom | |
| es | Síndrome de displasia espondiloepimetafisaria-antebrazos arqueados-dismorfia facial | |
| it | Displasia spondilometafisaria, incurvamento degli avambracci, dismorfismi facciali | |
| nl | Spondylometafysaire dysplasie - gebogen onderarmen - faciale dysmorfie-syndroom | |
| pt | Síndrome de displasia espondilometafisária-antebraços arqueados-dismorfia facial | |
| pl | Dysplazja kręgowo-przynasadowa sprzężona - łukowate przedramiona - dysmorfia twarzy | |
| cs | Syndrom zahrnující spondylometafyzární dysplázii, křivé předloktí a faciální dysmorfismus | |
| uk | Синдром спондилометафізарної дисплазії-зігнутого передпліччя-дисморфізму обличчя | |
| zh | 脊柱干骺端发育不良-前臂弯曲-面部畸形综合征 | |
| tr | Spondilometafizer displazi-eğik önkol-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607543 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0011856 | E | validated | |
| MeSH | C535791 | E | validated | |
| UMLS | C5190708 | E | validated | |
| GARD | 8719 | 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:254Spondylometaphyseal dysplasia
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 | 12503112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12503112[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168552
- This record as JSON: /data/d/168552.json