{"Name":"Arthrogryposis-hyperkeratosis syndrome, lethal form","DiseaseID__c":"GARD:0003053","id":3053,"encodedName":"arthrogryposis-hyperkeratosis-syndrome-lethal-form","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis-hyperkeratosis syndrome, lethal form","Xref_IDs__c":"726620005; C1859710; C535883; MEDGEN:349230; MONDO:0008826; OMIM:208158; ORPHA:1485","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":1,"Description_Source__c":"MONDO:0008826","Disease_Description__c":"A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.","GARD_Name__c":"Arthrogryposis-hyperkeratosis syndrome, lethal form","GARD_Synonym__c":"arthrogryposis hyperkeratosis syndrome lethal form; arthrogryposis with hyperkeratosis; johnston aarons schelley syndrome; johnston-aarons-schelley syndrome","Curated_Disease_Description_Source__c":"MONDO:0008826","Curated_Disease_Description__c":"A rare arthrogryposis multiplex congenita characterized by contractures (of the large joints, fingers and toes) and hyperkeratosis. Patients present with prematurity and decreased or absent sensory response. Severe hypoplasia of the dorsal roots and posterior columns has been reported. It is a lethal condition that occurs in early infancy. 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:1485","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008826","ORPHANET_ID__c":"ORPHA:1485","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de artrogriposis-hiperqueratosis, forma letal","Spanish_Description_Source__c":"ORPHA:1485","Spanish_Description__c":"Es un síndrome de artrogriposis, descrito hasta la fecha en dos hermanos, caracterizado por la asociación de múltiples contracturas articulares congénitas (de las grandes articulaciones y de los dedos de las manos y pies) e hiperqueratosis (es decir, piel gruesa, escamosa y agrietada) con fallecimiento en la infancia temprana. No se han publicado más casos en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de artrogriposis-hiperqueratosis, forma letal","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":"A rare arthrogryposis multiplex congenita characterized by contractures (of the large joints, fingers and toes) and hyperkeratosis. Patients present with prematurity and decreased or absent sensory response. Severe hypoplasia of the dorsal roots and posterior columns has been reported. It is a lethal condition that occurs in early infancy. There have been no further descriptions in the literature since 1993.","Curated_Disease_Description_Source__c":"MONDO:0008826","GARD_Synonym__c":"arthrogryposis hyperkeratosis syndrome lethal form; arthrogryposis with hyperkeratosis; johnston aarons schelley syndrome; johnston-aarons-schelley syndrome","Name":"Arthrogryposis-hyperkeratosis syndrome, lethal form","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:1485"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349230","Source__c":"C1859710","Xref__c":"MEDGEN:349230"},{"URL__c":"https://www.omim.org/entry/208158","Source__c":"C1859710; MONDO:0008826; ORPHA:1485","Xref__c":"OMIM:208158"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859710","Source__c":"C1859710","Xref__c":"C1859710"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535883","Source__c":"MONDO:0008826","Xref__c":"C535883"},{"URL__c":"https://www.orpha.net/en/disease/detail/1485","Source__c":"C1859710; MONDO:0008826; ORPHA:1485","Xref__c":"ORPHA:1485"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726620005","Source__c":"C1859710; MONDO:0008826","Xref__c":"726620005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008826","Source__c":"GARD:0003053","Xref__c":"MONDO:0008826"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:208158","Feature__r":{"HPO_Description__c":"Multiple congenital contractures in different body areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002804","HPO_Synonym__c":"Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures","HPO_Name__c":"Arthrogryposis multiplex congenita","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["arthrogryposis hyperkeratosis syndrome lethal form"," arthrogryposis with hyperkeratosis"," johnston aarons schelley syndrome"," johnston-aarons-schelley syndrome"]}