Congenitally short costocoracoid ligament

MedGen UID:: 342257
•Concept ID:: C1852523
•: Congenital Abnormality

Synonyms:	Congenital shortness of the costocoracoid ligament; Fixation of the scapula to the first rib by a congenitally short costocoracoid ligament
SNOMED CT:	Congenital short costocoracoid ligament (725101002); Congenitally short costocoracoid ligament (725101002)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007388
OMIM®:	122580
Orphanet:	ORPHA2391

Definition

A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities. [from SNOMEDCT_US]