{"Name":"Eyebrow duplication-syndactyly syndrome","DiseaseID__c":"GARD:0002216","id":2216,"encodedName":"eyebrow-duplication-syndactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Eyebrow duplication-syndactyly syndrome","Xref_IDs__c":"C1856896; C536383; MEDGEN:347327; MONDO:0009200; OMIM:227210; ORPHA:3172","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009200","Disease_Description__c":"Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.","GARD_Name__c":"Eyebrow duplication-syndactyly syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0009200","Curated_Disease_Description__c":"Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.","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:3172","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009200","ORPHANET_ID__c":"ORPHA:3172","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación de cejas-sindactilia","Spanish_Description_Source__c":"ORPHA:3172","Spanish_Description__c":"Es un síndrome caracterizado por la duplicación parcial de las cejas y sindactilia de los dedos de las manos y de los pies. Se ha descrito en tres pacientes (un hermano y una hermana, y un caso aislado). Alguno de los pacientes también desarrolló hiperelasticidad, hipertricosis y pestañas largas, así como arrugas periorbitales anómalas. La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de duplicación de cejas-sindactilia","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":"Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009200","Name":"Eyebrow duplication-syndactyly syndrome","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":"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3172"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3172"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3172","Source__c":"C1856896; MONDO:0009200","Xref__c":"ORPHA:3172"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347327","Source__c":"C1856896","Xref__c":"MEDGEN:347327"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536383","Source__c":"MONDO:0009200","Xref__c":"C536383"},{"URL__c":"https://www.omim.org/entry/227210","Source__c":"C1856896; MONDO:0009200; ORPHA:3172","Xref__c":"OMIM:227210"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856896","Source__c":"C1856896","Xref__c":"C1856896"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009200","Source__c":"GARD:0002216","Xref__c":"MONDO:0009200"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":[""]}