{"Name":"Arthrogryposis-ectodermal dysplasia-other anomalies syndrome","DiseaseID__c":"GARD:0005029","id":5029,"encodedName":"arthrogryposis-ectodermal-dysplasia-other-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis-ectodermal dysplasia-other anomalies syndrome","Xref_IDs__c":"C5191837; MEDGEN:1674099; MONDO:0044406; ORPHA:3200","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:3200","Disease_Description__c":"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Arthrogryposis-ectodermal dysplasia-other anomalies syndrome","GARD_Synonym__c":"arthrogryposis and ectodermal dysplasia syndrome; arthrogryposis-ectodermal dysplasia syndrome; arthrogryposis, ectodermal dysplasia, other anomalies syndrome; stoll alembik finck syndrome; stoll-alembik-finck syndrome","Curated_Disease_Description_Source__c":"ORPHA:3200","Curated_Disease_Description__c":"A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.","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:3200","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044406","ORPHANET_ID__c":"ORPHA:3200","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de artrogriposis-displasia ectodérmica-otras anomalías","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de artrogriposis-displasia ectodérmica-otras anomalías","Spanish_GARD_Synonym__c":"síndrome de stoll-alembik-finck","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, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"ORPHA:3200","GARD_Synonym__c":"arthrogryposis and ectodermal dysplasia syndrome; arthrogryposis-ectodermal dysplasia syndrome; arthrogryposis, ectodermal dysplasia, other anomalies syndrome; stoll alembik finck syndrome; stoll-alembik-finck syndrome","Name":"Arthrogryposis-ectodermal dysplasia-other anomalies 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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Infancy","Provided_By__c":"ORPHA:3200"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3200"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3200","Source__c":"C5191837; MONDO:0044406; ORPHA:3200","Xref__c":"ORPHA:3200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1674099","Source__c":"C5191837","Xref__c":"MEDGEN:1674099"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191837","Source__c":"C5191837","Xref__c":"C5191837"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044406","Source__c":"GARD:0005029","Xref__c":"MONDO:0044406"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=786039009","Source__c":"C5191837","Xref__c":"786039009"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology","Congenital limb malformation","Ectodermal dysplasia"]},"synonyms":["arthrogryposis and ectodermal dysplasia syndrome"," arthrogryposis-ectodermal dysplasia syndrome"," arthrogryposis, ectodermal dysplasia, other anomalies syndrome"," stoll alembik finck syndrome"," stoll-alembik-finck syndrome"]}