Spondyloepiphyseal dysplasia with metatarsal shortening
Synonyms: Czech dysplasia, metatarsal type · SED with metatarsal shortening
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia with metatarsal shortening | Czech dysplasia, metatarsal type · SED with metatarsal shortening |
| fr | Dysplasie spondyloépiphysaire avec raccourcissement des métatarsiens | Dysplasie tchèque type métatarsique · SED avec raccourcissement des métatarsiens |
| de | Dysplasie, spondyloepiphysäre, mit metatarsaler Verkürzung | SED mit metatarsaler Verkürzung · Tschechische Dysplasie, metatarsaler Typ |
| es | Displasia espondiloepifisaria con acortamiento metatarsiano | Displasia checa, tipo metatarsiano |
| it | Displasia spondiloepifisaria con accorciamento dei metatarsi | Displasia ceca, tipo metatarsico · SED con accorciamento dei metatarsi |
| nl | Spondylo-epifysaire dysplasie met abnormaal korte metatarsalen | SED met abnormaal korte metatarsalen · Tsjechische dysplasie, metatarsaal type |
| pt | Displasia espondiloepifisária com encurtamento metafisário | Displasia checa tipo metatársica |
| pl | Dysplazja kręgosłupowo-nasadowa ze skróceniem sródstopia | = en |
| cs | Česká dysplázie, metatarzální typ | = en |
| uk | Спондилоепіфізарна дисплазія з вкороченням плеснової кістки | Чеська дисплазія, плесновий тип · SED з укороченням плеснової кістки |
| zh | 跖骨型Czech发育不良 | = en |
| tr | Çek displazisi, metatarsal tip | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609162 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0012206 | E | validated | |
| MeSH | C535766 | E | validated | |
| UMLS | C1836683 | E | validated | |
| GARD | 10220 | 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 (2):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 17726487[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 families | Worldwide | Family(ies) | Validated | 30363003[PMID]_19764028[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30363003[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/137678
- This record as JSON: /data/d/137678.json