ORPHA:94068
Spondyloepiphyseal dysplasia congenita
Synonyms: Congenital spondyloepiphyseal dysplasia · SEDC · Spranger-Wiedemann disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia congenita | Congenital spondyloepiphyseal dysplasia · SEDC · Spranger-Wiedemann disease |
| fr | Dysplasie spondylo-épiphysaire congénitale | DSEC · Maladie de Spranger-Wiedemann · SEDC |
| de | Dysplasie, spondyloepiphysäre, kongenitaler Typ | |
| es | Displasia espondiloepifisaria congénita | |
| it | Displasia spondiloepifisaria congenita | |
| nl | Spondylo-epifysaire dysplasia congenita | Congenitale spondylo-epifysaire dysplasie · SEDC · Ziekte van Spranger-Wiedemann |
| pt | Displasia espondiloepifisária, tipo congénito | |
| pl | Wrodzona dysplazja kręgowo-nasadowa | Choroba Spranger i Wiedemanna · SEDC · Wrodzona dysplazja kręgowo-nasadowa |
| cs | Vrozená spondyloepifyzární dysplázie | = en |
| uk | Спондилоепіфізарна дисплазія вроджена | Вроджена спондилоепіфізарна дисплазія · SEDC · Хвороба Шпрангера-Відемана |
| zh | 先天性脊柱骨骺发育不良 | 先天性脊柱骨骺发育不良 |
| tr | Spondiloepifizyel displazi konjenita | SEDC · Spranger-Wiedemann hastalığı · Doğumsal spondiloepifizyal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183900 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0008471 | E | validated | |
| MeSH | C535788 | E | validated | |
| UMLS | C2745959 | E | validated | |
| GARD | 4987 | E | validated | |
| MedDRA | 10062920 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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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 | 26030151[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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.
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HPO phenotypes
42 annotations · validated 2020-09-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0010575 | Dysplasia of the femoral head | |
| HP:0001510 | Growth delay | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0000280 | Coarse facial features | |
| HP:0003180 | Flat acetabular roof | |
| HP:0012368 | Flat face | |
| HP:0002857 | Genu valgum | |
| HP:0030838 | Hip pain | |
| HP:0040194 | Increased head circumference | |
| HP:0002808 | Kyphosis | |
| HP:0000939 | Osteoporosis | |
| HP:0000926 | Platyspondyly | |
| HP:0000470 | Short neck | |
| HP:0009824 | Upper limb undergrowth | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0003418 | Back pain | |
| HP:0001552 | Barrel-shaped chest | |
| HP:0008462 | Cervical instability | |
| HP:0000175 | Cleft palate | |
| HP:0000162 | Glossoptosis | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0030839 | Knee pain | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0002996 | Limited elbow movement | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000545 | Myopia | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000541 | Retinal detachment | |
| HP:0100864 | Short femoral neck | |
| HP:0003097 | Short femur | |
| HP:0003026 | Short long bone | |
| HP:0010585 | Small epiphyses | |
| HP:0002176 | Spinal cord compression | |
| HP:0003306 | Spinal rigidity | |
| HP:0002515 | Waddling gait | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 31021589[PMID]_31972903[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94068
- This record as JSON: /data/d/94068.json