{"Name":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","DiseaseID__c":"GARD:0022076","id":22076,"encodedName":"congenital-brachyesophagus-intrathoracic-stomach-vertebral-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","Xref_IDs__c":"C5680208; MEDGEN:1807957; MONDO:0034895; ORPHA:514352","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0034895","Disease_Description__c":"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.","GARD_Name__c":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","GARD_Synonym__c":"congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome; serpentine-like syndrome","Curated_Disease_Description_Source__c":"MONDO:0034895","Curated_Disease_Description__c":"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:514352","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034895","ORPHANET_ID__c":"ORPHA:514352","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome congénito de braquiesófago-estómago intratorácico-anomalías vertebrales","Spanish_Description_Source__c":"ORPHA:514352","Spanish_Description__c":"Es una malformación esofágica sindrómica poco frecuente caracterizada por braquiesófago congénito grave con hernia diafragmática en la línea media y estómago intratorácico secundario, y anomalías vertebrales (en particular raquisquisis en la columna cervical/torácica). Otras manifestaciones adicionales descritas incluyen restricción del crecimiento intrauterino, cuello corto, malrotación intestinal, hernias en otros órganos abdominales y labio leporino, entre otras. Por lo general, el trastorno es mortal en el período neonatal o en la lactancia temprana.","Spanish_Disease_Name__c":"síndrome congénito de braquiesófago-estómago intratorácico-anomalías vertebrales","Spanish_GARD_Synonym__c":"síndrome congénito similar a serpentine","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 syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.","Curated_Disease_Description_Source__c":"MONDO:0034895","GARD_Synonym__c":"congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome; serpentine-like syndrome","Name":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:514352"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:514352"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/514352","Source__c":"C5680208; MONDO:0034895; ORPHA:514352","Xref__c":"ORPHA:514352"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1807957","Source__c":"C5680208","Xref__c":"MEDGEN:1807957"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680208","Source__c":"C5680208","Xref__c":"C5680208"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197754004","Source__c":"C5680208","Xref__c":"1197754004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034895","Source__c":"GARD:0022076","Xref__c":"MONDO:0034895"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome"," serpentine-like syndrome"]}