{"Name":"Congenital elevation of scapula","DiseaseID__c":"GARD:0007693","id":7693,"encodedName":"congenital-elevation-of-scapula","IsDeleted":false,"Disease_Name_Full__c":"Congenital elevation of scapula","Xref_IDs__c":"79120002; C0152438; C535802; MEDGEN:56291; MONDO:0008482; OMIM:184400; ORPHA:3181","USA_Estimate__c":null,"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":null,"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":3,"Description_Source__c":"GARD:0007693","Disease_Description__c":"Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation).","GARD_Name__c":"Congenital elevation of scapula","GARD_Synonym__c":"congenital, upward displacement of the scapula; high scapula; high shoulder blade; sprengel anomaly; sprengel deformity; sprengel deformity (disease); sprengel's deformity; undescended shoulder","Curated_Disease_Description_Source__c":"GARD:0007693","Curated_Disease_Description__c":"A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:3181","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008482","ORPHANET_ID__c":"ORPHA:3181","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalía de sprengel","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anomalía de sprengel","Spanish_GARD_Synonym__c":"sobreelevación del omóplato","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 an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.","Curated_Disease_Description_Source__c":"GARD:0007693","GARD_Synonym__c":"congenital, upward displacement of the scapula; high scapula; high shoulder blade; sprengel anomaly; sprengel deformity; sprengel deformity (disease); sprengel's deformity; undescended shoulder","Name":"Congenital elevation of scapula","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Española del Síndrome de Poland","Website__c":"https://www.aesip.es/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"}],"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":"Antenatal","Provided_By__c":"ORPHA:3181"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3181"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3181"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535802","Source__c":"MONDO:0008482","Xref__c":"C535802"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152438","Source__c":"C0152438","Xref__c":"C0152438"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56291","Source__c":"C0152438","Xref__c":"MEDGEN:56291"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=79120002","Source__c":"C0152438; MONDO:0008482","Xref__c":"79120002"},{"URL__c":"https://www.omim.org/entry/184400","Source__c":"C0152438; MONDO:0008482; ORPHA:3181","Xref__c":"OMIM:184400"},{"URL__c":"https://www.orpha.net/en/disease/detail/3181","Source__c":"C0152438; MONDO:0008482; ORPHA:3181","Xref__c":"ORPHA:3181"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008482","Source__c":"GARD:0007693","Xref__c":"MONDO:0008482"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000912","Source__c":"C0152438","Xref__c":"HP:0000912"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of muscles of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008952","HPO_Synonym__c":"Underdeveloped shoulder muscle","HPO_Name__c":"Shoulder muscle hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3181","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003043","HPO_Synonym__c":"Abnormality of the shoulder","HPO_Name__c":"Abnormal shoulder morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3181","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3181","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Pediatrics"]},"synonyms":["congenital, upward displacement of the scapula"," high scapula"," high shoulder blade"," sprengel anomaly"," sprengel deformity"," sprengel deformity (disease)"," sprengel's deformity"," undescended shoulder"],"spanishId":13657,"spanishName":"anomalia-de-sprengel"}