{"Name":"Isolated congenital syngnathia","DiseaseID__c":"GARD:0019962","id":19962,"encodedName":"isolated-congenital-syngnathia","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital syngnathia","Xref_IDs__c":"763317002; C4706392; MEDGEN:1635309; MONDO:0015409; ORPHA:141214","USA_Estimate__c":null,"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":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":1,"Description_Source__c":"MONDO:0015409","Disease_Description__c":"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.","GARD_Name__c":"Isolated congenital syngnathia","GARD_Synonym__c":"isolated congenital maxillomandibular fusion","Curated_Disease_Description_Source__c":"MONDO:0015409","Curated_Disease_Description__c":"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:141214","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015409","ORPHANET_ID__c":"ORPHA:141214","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Signatia congénita aislada","Spanish_Description_Source__c":"ORPHA:141214","Spanish_Description__c":"La signatia congénita aislada es un defecto del desarrollo durante la embriogénesis muy poco frecuente caracterizado por diversos grados de fusión congénita (que van desde simples adhesiones de la mucosa hasta fusión ósea extensa) de la mandíbula al maxilar y que no está asociada con ninguna otra malformación. Los afectados presentan limitación de la apertura bucal (que puede variar desde una restricción mínima a grave) que típicamente resulta en problemas de alimentación, deglución y/o dificultad respiratoria, pudiendo causar falta de crecimiento, desnutrición y/o anquilosis de la articulación temporomandibular.","Spanish_Disease_Name__c":"signatia congénita aislada","Spanish_GARD_Synonym__c":"fusión maxilomandibular congénita aislada","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":"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.","Curated_Disease_Description_Source__c":"MONDO:0015409","GARD_Synonym__c":"isolated congenital maxillomandibular fusion","Name":"Isolated congenital syngnathia","estimateUsa":""}],"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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:141214"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/141214","Source__c":"C4706392; MONDO:0015409; ORPHA:141214","Xref__c":"ORPHA:141214"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1635309","Source__c":"C4706392","Xref__c":"MEDGEN:1635309"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763317002","Source__c":"C4706392; MONDO:0015409","Xref__c":"763317002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706392","Source__c":"C4706392","Xref__c":"C4706392"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015409","Source__c":"GARD:0019962","Xref__c":"MONDO:0015409"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["isolated congenital maxillomandibular fusion"]}