Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | |
| fr | Syndrome de dysplasie spondylo-épimétaphysaire-membres courts-anomalies de calcification | |
| de | Spondyloepimetaphysäre Dysplasie mit kurzen Extremitäten und anormaler Kalzifizierung | |
| es | Síndrome de displasia espondiloepimetafisaria con extremidades cortas-anomalías de calcificación | |
| it | Sindrome da displasia spondiloepimetafisaria con arti corti e anomalie della calcificazione | |
| nl | Spondylo-epimetafysaire dysplasie - korte ledematen - abnormale calcificatie-syndroom | |
| pt | Síndrome de displasia espondiloepimetafisária-membros curtos-calcificação anormal | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa ze skróceniem kończyn i nieprawidłowym wapnieniem | |
| cs | Syndrom zahrnující spondyloepimetafyzární dysplázii, krátké končetiny a abnormální kalcifikaci | |
| uk | Синдром спондилоепіметафізарної дисплазії-аномальної кальцифікації коротких кінцівок | |
| zh | 脊椎干骺端发育不良-短肢-异常钙化综合征 | |
| tr | Spondiloepimetafizyal displazi-kısa ekstremite-anormal kalsifikasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271665 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010077 | E | validated | |
| UMLS | C4707851 | E | validated | |
| GARD | 10616 | 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 |
|---|---|---|---|---|---|---|---|---|
| DDR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2731 | ENSG00000162733 | 191311 | 1q23.3 | discoidin domain receptor tyrosine kinase 2 | 19110212[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 26463668[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26463668[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/93358
- This record as JSON: /data/d/93358.json