{"Name":"Fetal akinesia deformation sequence","DiseaseID__c":"GARD:0009634","id":9634,"encodedName":"fetal-akinesia-deformation-sequence","IsDeleted":false,"Disease_Name_Full__c":"Fetal akinesia deformation sequence","Xref_IDs__c":"401138005; C129071; C536647; CN263240; DOID:0111375; MEDGEN:946268; MONDO:0008824; OMIMPS:208150","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008824","Disease_Description__c":"Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.","GARD_Name__c":"Fetal akinesia deformation sequence","GARD_Synonym__c":"arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; fads","Curated_Disease_Description_Source__c":"GARD:0009634","Curated_Disease_Description__c":"Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by genetic changes in the RAPSN or DOK7 genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:994","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008824","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by genetic changes in the RAPSN or DOK7 genes.","Curated_Disease_Description_Source__c":"GARD:0009634","GARD_Synonym__c":"arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; fads","Name":"Fetal akinesia deformation sequence","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.org/"},{"Account_Name__c":"The Arthrogryposis Group","Website__c":"http://www.arthrogryposis.co.uk/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009634","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=401138005","Source__c":"MONDO:0008824","Xref__c":"401138005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536647","Source__c":"MONDO:0008824","Xref__c":"C536647"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS208150","Source__c":"MONDO:0008824","Xref__c":"OMIMPS:208150"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129071","Source__c":"MONDO:0008824","Xref__c":"C129071"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111375","Source__c":"MONDO:0008824","Xref__c":"DOID:0111375"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008824","Source__c":"GARD:0009634","Xref__c":"MONDO:0008824"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=946268","Source__c":"CN263240","Xref__c":"MEDGEN:946268"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN263240","Source__c":"CN263240","Xref__c":"CN263240"}],"tags":{},"synonyms":["arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome"," fads"]}