Sternal cleft
Synonyms: Sternum bifidum · Cleft sternum
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sternal cleft | Sternum bifidum · Cleft sternum |
| fr | Fente sternale | Sternum bifidum |
| de | Sternum-Spalte | Sternum bifidum |
| es | Hendidura esternal | Celosomia torácica |
| it | Schisi sternale | Celosomia toracica |
| nl | Sternale splijting | Gespleten sternum · Sternale bifurcatie |
| pt | Fenda do esterno | Celossomia torácica |
| pl | Rozszczep mostka | Rozszczep mostka · Sternum bifidum |
| cs | Sternální rozštěp | Sternum bifidum · Rozštěp sterna |
| uk | Розщеплення (незарощення) грудини | Розщеплення грудини · Подвоєння грудини (Sternum bifidum) |
| zh | 胸骨裂 | 对裂胸骨 |
| tr | Sternal yarık | Yarık sternum · Sternum bifidum |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q76.7 | NTBT | inclusion | validated |
| ICD-11 | LB73.13 | NTBT | index | validated |
| MONDO | 0016066 | E | validated | |
| MeSH | C537489 | E | validated | |
| UMLS | C2931507 | E | validated | |
| GARD | 5012 | 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:180776Non-syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
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 2024-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000766 | Abnormal sternum morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0010309 | Bifid sternum | |
| Frequent (79-30%) | ||
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0002205 | Recurrent respiratory infections | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31971714[PMID]_36269683[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2017
- This record as JSON: /data/d/2017.json