{"Name":"Congenital temporomandibular joint ankylosis","DiseaseID__c":"GARD:0020450","id":20450,"encodedName":"congenital-temporomandibular-joint-ankylosis","IsDeleted":false,"Disease_Name_Full__c":"Congenital temporomandibular joint ankylosis","Xref_IDs__c":"763215008; C4706319; MEDGEN:1638477; MONDO:0016220; ORPHA:210576","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016220","Disease_Description__c":"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.","GARD_Name__c":"Congenital temporomandibular joint ankylosis","GARD_Synonym__c":"congenital ankylosis of temporomandibular joint; congenital trismus","Curated_Disease_Description_Source__c":"MONDO:0016220","Curated_Disease_Description__c":"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:210576","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016220","ORPHANET_ID__c":"ORPHA:210576","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anquilosis congénita de la articulación temporomandibular","Spanish_Description_Source__c":"ORPHA:210576","Spanish_Description__c":"La anquilosis congénita de la articulación temporomandibular es un trastorno maxilofacial poco frecuente caracterizado por una reducción significativa en la apertura de la boca (es decir, desde unos milímetros hasta unos pocos centímetros) en ausencia de factores adquiridos (por ejemplo, trauma, infección) que contribuyan a la anquilosis. Se asocia con grados variables de dismorfia facial (es decir, desviación lateral de la mandíbula y del mentón, asimetría facial inferior, retrognatia, micrognatia, maloclusión dental) y los afectados suelen presentar dificultades alimentarias y respiratorias. También se han notificado casos de retraso del desarrollo, hipotonía, convulsiones y características dismórficas adicionales (por ejemplo, pectus excavatum, orejas de implantación baja, alas nasales hipoplásicas).","Spanish_Disease_Name__c":"anquilosis congénita de la articulación temporomandibular","Spanish_GARD_Synonym__c":"trismus congénito","Category_Linearization__c":"ORPHA:68329","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":"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0016220","GARD_Synonym__c":"congenital ankylosis of temporomandibular joint; congenital trismus","Name":"Congenital temporomandibular joint ankylosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"TMJ Association, Ltd.","Website__c":"https://tmj.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763215008","Source__c":"C4706319; MONDO:0016220","Xref__c":"763215008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706319","Source__c":"C4706319","Xref__c":"C4706319"},{"URL__c":"https://www.orpha.net/en/disease/detail/210576","Source__c":"C4706319; MONDO:0016220; ORPHA:210576","Xref__c":"ORPHA:210576"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1638477","Source__c":"C4706319","Xref__c":"MEDGEN:1638477"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016220","Source__c":"GARD:0020450","Xref__c":"MONDO:0016220"}],"tags":{},"synonyms":["congenital ankylosis of temporomandibular joint"," congenital trismus"]}