X-linked spondyloepimetaphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Status
- active
A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked spondyloepimetaphyseal dysplasia | |
| fr | Dysplasie spondylo-épimétaphysaire liée à l'X | |
| de | Dysplasie, spondyloepimetaphysäre, X-chromosomale | |
| es | Displasia espondiloepimetafisaria ligada al cromosoma X | |
| it | Displasia spondiloepimetafisaria legata all'X | |
| nl | X-gebonden spondylo-epimetafysaire dysplasie | |
| pt | Displasia espondiloepimetafisária ligada ao X | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa sprzężona z chromosomem X | |
| cs | X-vázaná spondyloepimetafyzární dysplázie | |
| uk | Х-зчеплена спондилоепіметафізарна дисплазія | |
| zh | X连锁脊椎干骺端发育不良 | |
| tr | X'e bağlı spondiloepimetafizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300106 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010248 | E | validated | |
| MeSH | C564714 | E | validated | |
| UMLS | C1848097 | E | validated | |
| GARD | 4979 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BGN | Disease-causing germline mutation(s) in | Assessed | HGNC:1044 | ENSG00000182492 | 301870 | Xq28 | biglycan | 27236923[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8064814[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27236923[PMID]_8064814[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93349
- This record as JSON: /data/d/93349.json