{"Name":"Commissural facial cleft","DiseaseID__c":"GARD:0016975","id":16975,"encodedName":"commissural-facial-cleft","IsDeleted":false,"Disease_Name_Full__c":"Commissural facial cleft","Xref_IDs__c":"40159009; C3150792; D008265; MEDGEN:462142; MONDO:0013300; OMIM:613545; ORPHA:141276; Q18.4","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013300","Disease_Description__c":"Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)","GARD_Name__c":"Commissural facial cleft","GARD_Synonym__c":"commissural cleft, isolated; lateral cleft, isolated; macrostomia; macrostomia, isolated; tessier number 7 facial cleft; transverse cleft, isolated; transverse facial cleft","Curated_Disease_Description_Source__c":"ORPHA:141276","Curated_Disease_Description__c":"A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:141276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013300","ORPHANET_ID__c":"ORPHA:141276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hendidura facial número 7 de tessier","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hendidura facial número 7 de tessier","Spanish_GARD_Synonym__c":"hendidura facial en la comisura; hendidura facial transversal","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 lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.","Curated_Disease_Description_Source__c":"ORPHA:141276","GARD_Synonym__c":"commissural cleft, isolated; lateral cleft, isolated; macrostomia; macrostomia, isolated; tessier number 7 facial cleft; transverse cleft, isolated; transverse facial cleft","Name":"Commissural facial cleft","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"}],"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:141276"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:141276"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462142","Source__c":"C3150792","Xref__c":"MEDGEN:462142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40159009","Source__c":"MONDO:0013300","Xref__c":"40159009"},{"URL__c":"https://www.orpha.net/en/disease/detail/141276","Source__c":"C3150792; MONDO:0013300","Xref__c":"ORPHA:141276"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008265","Source__c":"MONDO:0013300","Xref__c":"D008265"},{"URL__c":"https://www.omim.org/entry/613545","Source__c":"C3150792; MONDO:0013300; ORPHA:141276","Xref__c":"OMIM:613545"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150792","Source__c":"C3150792","Xref__c":"C3150792"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013300","Source__c":"GARD:0016975","Xref__c":"MONDO:0013300"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q18.4","Source__c":"MONDO:0013300","Xref__c":"Q18.4"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTCH2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPECC1L","GHR_URL__c":"https://medlineplus.gov/genetics/gene/specc1l","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["commissural cleft, isolated"," lateral cleft, isolated"," macrostomia"," macrostomia, isolated"," tessier number 7 facial cleft"," transverse cleft, isolated"," transverse facial cleft"]}