Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth, with shortened limbs and other skeletal abnormalities, including lordosis, kyphoscoliosis, flattened vertebrae, coxa vara, and abnormal epiphyses and metaphyses evident within the first year of life. The presence of metaphyseal dysplasia differentiates this condition from spondyloepiphyseal dysplasia congenita (SEDC). Ocular abnormalities, such as myopia, are frequently associated. Characteristic facial features include hypertelorism, a flat facial profile, and the Pierre Robin sequence. An increased risk of cervical (atlantoaxial) instability due to delayed ossification of the odontoid process has also been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | |
| fr | Dysplasie spondylo-épimétaphysaire type Strudwick | |
| de | Dysplasie, spondyloepimetaphysäre, Typ Strudwick | |
| es | Displasia espondiloepimetafisaria tipo Strudwick | |
| it | Displasia spondiloepimetafisaria congenita, tipo Strudwick | |
| nl | Spondylo-epimetafysaire dysplasia congenita, Strudwick-type | |
| pt | Displasia espondiloepimetafisária congénita, tipo Strudwick | |
| pl | Wrodzona dysplazja kręgowo-nasadowo-przynasadowa typu Strudwicka | |
| cs | Spondyloepimetafyzární vrozená dysplázie, Strudwickův typ | |
| uk | Спондилоепіметафізарна дисплазія вроджена, тип Струдвіка | |
| zh | 先天性脊椎骨骺发育不良，Strudwick型 | |
| tr | Spondiloepimetafizyal displazi konjenita, Strudwick tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184250 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0008476 | E | validated | |
| MeSH | C537501 | E | validated | |
| UMLS | C0700635 | E | validated | |
| GARD | 134 | 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 | 7550321[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
24 annotations · validated 2020-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities | |
| HP:0003015 | Flared metaphysis | |
| Frequent (79-30%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0008462 | Cervical instability | |
| HP:0000280 | Coarse facial features | |
| HP:0012368 | Flat face | |
| HP:0000162 | Glossoptosis | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0003173 | Hypoplastic pubic bone | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0003026 | Short long bone | |
| HP:0010585 | Small epiphyses | |
| Occasional (29-5%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0000670 | Carious teeth | |
| HP:0001216 | Delayed ossification of carpal bones | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0008800 | Limited hip movement | |
| HP:0009800 | Maternal diabetes | |
| HP:0000926 | Platyspondyly | |
| HP:0005193 | Restricted large joint movement | |
| HP:0002176 | Spinal cord compression | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 7550321[PMID]_31021589[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93346
- This record as JSON: /data/d/93346.json