Sprengel deformity
Synonyms: High scapula
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sprengel deformity | High scapula |
| fr | Anomalie de Sprengel | Surélévation de l'omoplate |
| de | Sprengel-Deformität | Schulterblatthochstand · Sprengel-Phänotyp |
| es | Anomalía de Sprengel | Sobreelevación del omóplato |
| it | Anomalia di Sprengel | Sopraelevazione della scapola |
| nl | Deformiteit van Sprengel | Hoogstand van scapula · Hoogstand van schouderblad · Sprengel-misvorming |
| pt | Deformidade de Sprengel | Escápula alta |
| pl | Deformacja Sprengela | Wysoka łopatka |
| cs | Sprengelova deformita | Vysoký stav lopatky · Asymetrie lopatky |
| uk | Деформація Шпренгеля | Висока лопатка |
| zh | 高位肩胛 | 高位肩胛 |
| tr | Sprengel deformitesi | Yüksek skapula |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184400 | E | validated | |
| ICD-10 | Q74.0 | NTBT | inclusion | validated |
| ICD-11 | LB72.1 | E | specific | validated |
| MONDO | 0008482 | E | validated | |
| MeSH | C535802 | E | validated | |
| UMLS | C0152438 | E | validated | |
| GARD | 7693 | E | validated | |
| MedDRA | 10010455 | 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:182108Thoracic malformation
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003043 | Abnormality of the shoulder | |
| HP:0001435 | Abnormality of the shoulder girdle musculature | |
| HP:0000470 | Short neck | |
| HP:0008952 | Shoulder muscle hypoplasia | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3181
- This record as JSON: /data/d/3181.json