{"Name":"Ectodermal dysplasia-syndactyly syndrome","DiseaseID__c":"GARD:0017198","id":17198,"encodedName":"ectodermal-dysplasia-syndactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ectodermal dysplasia-syndactyly syndrome","Xref_IDs__c":"C4749852; MEDGEN:1648397; MONDO:0013311; OMIMPS:613573; ORPHA:247820","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013311","Disease_Description__c":"Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.","GARD_Name__c":"Ectodermal dysplasia-syndactyly syndrome","GARD_Synonym__c":"ectodermal dysplasia syndactyly syndrome; ectodermal dysplasia-syndactyly syndrome type 1; edss; edss1","Curated_Disease_Description_Source__c":"MONDO:0013311","Curated_Disease_Description__c":"Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.","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:247820","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013311","ORPHANET_ID__c":"ORPHA:247820","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia ectodérmica-sindactilia","Spanish_Description_Source__c":"ORPHA:247820","Spanish_Description__c":"Es un síndrome de displasia ectodérmica, genético y poco frecuente, caracterizado por pelo escaso o ausente en cuero cabelludo, cejas y pestañas (con los cabellos ensortijados), dientes cónicos y muy separados en forma de clavija, coronas cónicas e hipoplasia del esmalte, así como hiperqueratosis palmoplantar, junto con sindactilia cutánea parcial en manos y pies.","Spanish_Disease_Name__c":"síndrome de displasia ectodérmica-sindactilia","Spanish_GARD_Synonym__c":"edss; edss1","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":"Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.","Curated_Disease_Description_Source__c":"MONDO:0013311","GARD_Synonym__c":"ectodermal dysplasia syndactyly syndrome; ectodermal dysplasia-syndactyly syndrome type 1; edss; edss1","Name":"Ectodermal dysplasia-syndactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"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":"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:247820"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:247820"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS613573","Source__c":"MONDO:0013311","Xref__c":"OMIMPS:613573"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648397","Source__c":"C4749852","Xref__c":"MEDGEN:1648397"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749852","Source__c":"C4749852","Xref__c":"C4749852"},{"URL__c":"https://www.orpha.net/en/disease/detail/247820","Source__c":"C4749852; MONDO:0013311; ORPHA:247820","Xref__c":"ORPHA:247820"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013311","Source__c":"GARD:0017198","Xref__c":"MONDO:0013311"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771335004","Source__c":"C4749852","Xref__c":"771335004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NECTIN4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["ectodermal dysplasia syndactyly syndrome"," ectodermal dysplasia-syndactyly syndrome type 1"," edss"," edss1"]}