Congenitally short costocoracoid ligament
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenitally short costocoracoid ligament | |
| fr | Raccourcissement congénital du ligament costo-coracoïde | |
| de | Kostokorakoides Ligament, verkürztes, kongenitales | |
| es | Acortamiento congénito de ligamento costocoracoide | |
| it | Accorciamento congenito del legamento costocoracoide | |
| nl | Congenitaal kort costocoracoïd ligament | |
| pt | Ligamento costocoracóide curto congénito | |
| pl | Wrodzone krótkie więzadło żebrowo-krucze | |
| cs | Vrozeně krátké ligamentum costocoracoideum | |
| uk | Вроджена коротка костокоракоїдна звязка | |
| zh | 先天性短肩胛上横韧带 | |
| tr | Doğumsal kısa kostokorakoid bağ |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122580 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0007388 | E | validated | |
| MeSH | C536448 | E | validated | |
| UMLS | C1852523 | E | validated | |
| GARD | 1551 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 2596500[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2596500[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/2391
- This record as JSON: /data/d/2391.json