Spondyloepiphyseal dysplasia, Stanescu type
Synonyms: SED, Stanescu type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia, Stanescu type | SED, Stanescu type |
| fr | Dysplasie spondyloépiphysaire type Stanescu | SED type Stanescu |
| de | Dysplasie, spondyloepiphysäre, Typ Stanescu | SED, vom Typ Stanescu |
| es | Displasia espondiloepifisaria tipo Stanescu | DEE tipo Stanescu |
| it | Displasia spondiloepifisaria, tipo Stanescu | |
| nl | Spondylo-epifysaire dysplasie, Stanescu type | = en |
| pt | Displasia espondiloepifisária, tipo Stanescu | |
| pl | Dysplazja kręgowo-nasadowa, typ Stanescu | SED, typ Stanescu |
| cs | Spondyloepifyzární dysplázie, typ Stanescuových | SED, typ Stanescu |
| uk | Спондилоепіфізарна дисплазія, тип Станеску | SED, тип Stanescu |
| zh | 脊柱骨骺发育不良，斯特内斯库型 | 斯特内斯库型SED |
| tr | Spondiloepifiz displazi, Stanescu tipi | SED, Stanescu tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616583 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0014701 | E | validated | |
| UMLS | C4225273 | 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 | 26183434[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 6430256[PMID]_26183434[PMID]_9592900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6430256[PMID]_26183434[PMID]_9592900[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/459051
- This record as JSON: /data/d/459051.json