{"Name":"Curly hair - acral keratoderma - caries syndrome","DiseaseID__c":"GARD:0010163","id":10163,"encodedName":"curly-hair-acral-keratoderma-caries-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Curly hair - acral keratoderma - caries syndrome","Xref_IDs__c":"C1843291; C536220; MEDGEN:335923; MONDO:0011883; OMIM:607656; ORPHA:307766","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011883","Disease_Description__c":"Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.","GARD_Name__c":"Curly hair - acral keratoderma - caries syndrome","GARD_Synonym__c":"chac syndrome; chacs; chacs - curly hair, acral keratoderma, caries syndrome; curly hair-acral keratoderma-caries syndrome; curly hair, acral keratoderma, caries syndrome","Curated_Disease_Description_Source__c":"MONDO:0011883","Curated_Disease_Description__c":"Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:307766","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011883","ORPHANET_ID__c":"ORPHA:307766","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cabello rizado-queratodermia acral-caries","Spanish_Description_Source__c":"ORPHA:307766","Spanish_Description__c":"El síndrome de cabello rizado-queratodermia acral-caries es un síndrome de displasia ectodérmica extremadamente infrecuente. Se caracteriza por la pérdida prematura de un cabello rizado, frágil y seco y de los dientes como consecuencia de una caries, distrofia ungueal con engrosamiento de las uñas de manos y pies, queratodermia acral e hipohidrosis. Se asocia asimismo con cejas y pestañas escasas, receso de la línea de implantación frontal del cabello y una región malar aplanada. La intensidad de estos hallazgos parece aumentar con la edad.","Spanish_Disease_Name__c":"síndrome de cabello rizado-queratodermia acral-caries","Spanish_GARD_Synonym__c":"chacs; síndrome chac","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":"Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.","Curated_Disease_Description_Source__c":"MONDO:0011883","GARD_Synonym__c":"chac syndrome; chacs; chacs - curly hair, acral keratoderma, caries syndrome; curly hair-acral keratoderma-caries syndrome; curly hair, acral keratoderma, caries syndrome","Name":"Curly hair - acral keratoderma - caries 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":"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":"Odontology","Tag_Category__c":"Specialist"},{"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":"Childhood","Provided_By__c":"ORPHA:307766"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:307766"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335923","Source__c":"C1843291","Xref__c":"MEDGEN:335923"},{"URL__c":"https://www.omim.org/entry/607656","Source__c":"C1843291; MONDO:0011883; ORPHA:307766","Xref__c":"OMIM:607656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536220","Source__c":"MONDO:0011883","Xref__c":"C536220"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843291","Source__c":"C1843291","Xref__c":"C1843291"},{"URL__c":"https://www.orpha.net/en/disease/detail/307766","Source__c":"C1843291; MONDO:0011883; ORPHA:307766","Xref__c":"ORPHA:307766"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011883","Source__c":"GARD:0010163","Xref__c":"MONDO:0011883"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763686007","Source__c":"C1843291","Xref__c":"763686007"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["chac syndrome"," chacs"," chacs - curly hair, acral keratoderma, caries syndrome"," curly hair-acral keratoderma-caries syndrome"," curly hair, acral keratoderma, caries syndrome"]}