Congenitally short costocoracoid ligament
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
10
|
|
OrphanetNr:
|
2391
|
|
OMIM Id:
|
122580
|
|
ICD-10:
|
|
|
UMLs:
|
C1852523
|
|
MeSH:
|
C536448
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
1
family
[Orphanet]
|
|
Inheritance:
|
Autosomal dominant
[Orphanet]
|
|
Age of onset:
|
Neonatal
Infancy
[Orphanet]
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Thoracic malformation
-Rare respiratory disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0000782)
|
Abnormality of the scapula |
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0001435)
|
Abnormality of the shoulder girdle musculature |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
6
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
7
|
(OMIM)
|
Scapula fixed to first rib |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Limited scapular motion |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Loss of anterior clavicular contour |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Congenitally short costocoracoid ligament |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |