{"Name":"Duane anomaly-myopathy-scoliosis syndrome","DiseaseID__c":"GARD:0018842","id":18842,"encodedName":"duane-anomaly-myopathy-scoliosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Duane anomaly-myopathy-scoliosis syndrome","Xref_IDs__c":"CN277608; MEDGEN:960636; MONDO:0033672","USA_Estimate__c":"1,000","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":"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0033672","Disease_Description__c":"A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.","GARD_Name__c":"Duane anomaly-myopathy-scoliosis syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:50817","Curated_Disease_Description__c":"Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:50817","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033672","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":"Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.","Curated_Disease_Description_Source__c":"ORPHA:50817","Name":"Duane anomaly-myopathy-scoliosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033672","Source__c":"GARD:0018842","Xref__c":"MONDO:0033672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=960636","Source__c":"CN277608","Xref__c":"MEDGEN:960636"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN277608","Source__c":"CN277608","Xref__c":"CN277608"}],"Inheritance__c":["Autosomal recessive"],"tags":{},"synonyms":[""]}