{"Name":"Ankyloblepharon filiforme-imperforate anus syndrome","DiseaseID__c":"GARD:0000697","id":697,"encodedName":"ankyloblepharon-filiforme-imperforate-anus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ankyloblepharon filiforme-imperforate anus syndrome","Xref_IDs__c":"C4751231; MEDGEN:1666000; MONDO:0015201; ORPHA:1074","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Description_Source__c":"MONDO:0015201","Disease_Description__c":"A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Ankyloblepharon filiforme-imperforate anus syndrome","GARD_Synonym__c":"ankyloblepharon filiforme adnatum with imperforate anus syndrome; ankyloblepharon filiforme adnatum-imperforate anus syndrome; aughton hufnagle syndrome; aughton-hufnagle syndrome","Curated_Disease_Description_Source__c":"MONDO:0015201","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1074","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015201","ORPHANET_ID__c":"ORPHA:1074","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anquilobléfaron filiforme congénito-ano imperforado","Spanish_Description_Source__c":"ORPHA:1074","Spanish_Description__c":"Es un síndrome de malformaciones por defectos del desarrollo embrionario extremadamente infrecuente caracterizado por bandas de tejido extensible que conectan los márgenes de los párpados superiores e inferiores, en asociación con atresia anal. Los afectados también pueden presentar paladar hendido, hidrocefalia y meningomielocele. No se han descrito más casos en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de anquilobléfaron filiforme congénito-ano imperforado","Spanish_GARD_Synonym__c":"síndrome de aughton-hufnagle","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 developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.","Curated_Disease_Description_Source__c":"MONDO:0015201","GARD_Synonym__c":"ankyloblepharon filiforme adnatum with imperforate anus syndrome; ankyloblepharon filiforme adnatum-imperforate anus syndrome; aughton hufnagle syndrome; aughton-hufnagle syndrome","Name":"Ankyloblepharon filiforme-imperforate anus syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1074"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751231","Source__c":"C4751231","Xref__c":"C4751231"},{"URL__c":"https://www.orpha.net/en/disease/detail/1074","Source__c":"C4751231; MONDO:0015201; ORPHA:1074","Xref__c":"ORPHA:1074"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1666000","Source__c":"C4751231","Xref__c":"MEDGEN:1666000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773770009","Source__c":"C4751231","Xref__c":"773770009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015201","Source__c":"GARD:0000697","Xref__c":"MONDO:0015201"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1074","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009755","HPO_Synonym__c":"Adhesion of eyelids; Ankyloblepharon filiforme adnatum; Eyelid synechiae; Eyelids stuck together; Fused eyelid","HPO_Name__c":"Ankyloblepharon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1074","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100335","HPO_Synonym__c":"Non-midline cleft of the upper lip; Paramedian cleft of the upper lip","HPO_Name__c":"Non-midline cleft of the upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1074","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1074","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1074","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Dermatology","Craniofacial Anomalies","Congenital limb malformation","Ectodermal dysplasia"]},"synonyms":["ankyloblepharon filiforme adnatum with imperforate anus syndrome"," ankyloblepharon filiforme adnatum-imperforate anus syndrome"," aughton hufnagle syndrome"," aughton-hufnagle syndrome"]}