{"Name":"Isolated ankyloblepharon filiforme adnatum","DiseaseID__c":"GARD:0019168","id":19168,"encodedName":"isolated-ankyloblepharon-filiforme-adnatum","IsDeleted":false,"Disease_Name_Full__c":"Isolated ankyloblepharon filiforme adnatum","Xref_IDs__c":"C1302999; MEDGEN:227001; MONDO:0019626; ORPHA:91397","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019626","Disease_Description__c":"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.","GARD_Name__c":"Isolated ankyloblepharon filiforme adnatum","GARD_Synonym__c":"ankyloblepharon filiforme adnatum","Curated_Disease_Description_Source__c":"MONDO:0019626","Curated_Disease_Description__c":"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:91397","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019626","ORPHANET_ID__c":"ORPHA:91397","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anquilobléfaron filiforme ad natum aislado","Spanish_Description_Source__c":"ORPHA:91397","Spanish_Description__c":"Es un trastorno caracterizado por la presencia de bandas delgadas únicas o múltiples de tejido conectivo entre los párpados superior e inferior que impiden la apertura completa del ojo. Se han descrito varios casos en la literatura científica. Puede ocurrir de forma esporádica o siguiendo un patrón de transmisión autosómico dominante. En algunos casos, el AFA puede estar asociado a otros trastornos, como la trisomía 18. Las bandas deben retirarse para evitar la ambliopía y esto se puede realizar fácilmente en el período neonatal.","Spanish_Disease_Name__c":"anquilobléfaron filiforme ad natum aislado","Spanish_GARD_Synonym__c":null,"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 ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.","Curated_Disease_Description_Source__c":"MONDO:0019626","GARD_Synonym__c":"ankyloblepharon filiforme adnatum","Name":"Isolated ankyloblepharon filiforme adnatum","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Infancy","Provided_By__c":"ORPHA:91397"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91397"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1302999","Source__c":"C1302999","Xref__c":"C1302999"},{"URL__c":"https://www.orpha.net/en/disease/detail/91397","Source__c":"C1302999; MONDO:0019626; ORPHA:91397","Xref__c":"ORPHA:91397"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=227001","Source__c":"C1302999","Xref__c":"MEDGEN:227001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=400952003","Source__c":"C1302999","Xref__c":"400952003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019626","Source__c":"GARD:0019168","Xref__c":"MONDO:0019626"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["ankyloblepharon filiforme adnatum"]}