{"Name":"Congenitally short costocoracoid ligament","DiseaseID__c":"GARD:0001551","id":1551,"encodedName":"congenitally-short-costocoracoid-ligament","IsDeleted":false,"Disease_Name_Full__c":"Congenitally short costocoracoid ligament","Xref_IDs__c":"725101002; C1852523; C536448; MEDGEN:342257; MONDO:0007388; OMIM:122580; ORPHA:2391","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007388","Disease_Description__c":"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.","GARD_Name__c":"Congenitally short costocoracoid ligament","GARD_Synonym__c":"congenital short costocoracoid ligament; congenital shortness of the costocoracoid ligament; fixation of the scapula to the first rib by a congenitally short costocoracoid ligament","Curated_Disease_Description_Source__c":"MONDO:0007388","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2391","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007388","ORPHANET_ID__c":"ORPHA:2391","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acortamiento congénito de ligamento costocoracoide","Spanish_Description_Source__c":"ORPHA:2391","Spanish_Description__c":"Es una malformación torácica poco frecuente caracterizada por la fijación de la escápula a la primera costilla por un acortamiento congénito del ligamento costocoracoideo, que resulta en una limitación de la rotación o retracción de la escápula, así como en redondeo de los hombros y pérdida del contorno clavicular anterior. No ha habido más descripciones en la literatura desde 1989.","Spanish_Disease_Name__c":"acortamiento congénito de ligamento costocoracoide","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0007388","GARD_Synonym__c":"congenital short costocoracoid ligament; congenital shortness of the costocoracoid ligament; fixation of the scapula to the first rib by a congenitally short costocoracoid ligament","Name":"Congenitally short costocoracoid ligament","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2391"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2391"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852523","Source__c":"C1852523","Xref__c":"C1852523"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536448","Source__c":"MONDO:0007388","Xref__c":"C536448"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342257","Source__c":"C1852523","Xref__c":"MEDGEN:342257"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725101002","Source__c":"C1852523; MONDO:0007388","Xref__c":"725101002"},{"URL__c":"https://www.orpha.net/en/disease/detail/2391","Source__c":"C1852523; MONDO:0007388; ORPHA:2391","Xref__c":"ORPHA:2391"},{"URL__c":"https://www.omim.org/entry/122580","Source__c":"C1852523; MONDO:0007388; ORPHA:2391","Xref__c":"OMIM:122580"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007388","Source__c":"GARD:0001551","Xref__c":"MONDO:0007388"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:122580","Feature__r":{"HPO_Description__c":"Low set, steeply sloping shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200021","HPO_Synonym__c":"Down-sloping shoulders; Rounded shoulders; Rounded, sloping shoulders; Sloping shoulders","HPO_Name__c":"Down-sloping shoulders","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:122580","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001435","HPO_Synonym__c":"Abnormality of shoulder musculature","HPO_Name__c":"Abnormality of the shoulder girdle musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:122580","Feature__r":{"HPO_Description__c":"Any abnormality of the scapula, also known as the shoulder blade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000782","HPO_Synonym__c":"Abnormality of the shoulder blade","HPO_Name__c":"Abnormal scapula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Pediatrics"]},"synonyms":["congenital short costocoracoid ligament"," congenital shortness of the costocoracoid ligament"," fixation of the scapula to the first rib by a congenitally short costocoracoid ligament"]}