{"Name":"Mononen-Karnes-Senac syndrome","DiseaseID__c":"GARD:0004886","id":4886,"encodedName":"mononen-karnes-senac-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mononen-Karnes-Senac syndrome","Xref_IDs__c":"733095006; C1844919; C535914; DOID:0110973; MEDGEN:336815; MONDO:0010538; OMIM:301940; ORPHA:2565","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010538","Disease_Description__c":"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.","GARD_Name__c":"Mononen-Karnes-Senac syndrome","GARD_Synonym__c":"brachydactyly, mononen type; mononen type brachydactyly; short and abducted thumbs and great toes; skeletal dysplasia-brachydactyly syndrome","Curated_Disease_Description_Source__c":"MONDO:0010538","Curated_Disease_Description__c":"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.","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:2565","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010538","ORPHANET_ID__c":"ORPHA:2565","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mononen-karnes-senac","Spanish_Description_Source__c":"ORPHA:2565","Spanish_Description__c":"Es un síndrome caracterizado por displasia esquelética asociada a malformaciones de los dedos (braquidactilia con pulgares cortos y abducidos, dedos índices cortos y dedos de los pies cortos y abducidos), talla baja variable, piernas ligeramente incurvadas con crecimiento excesivo del peroné. Se ha descrito en dos varones, sus madres, y una tía materna. Las mujeres están menos afectadas que los varones. Se ha sugerido la herencia dominante ligada al cromosoma X.","Spanish_Disease_Name__c":"síndrome de mononen-karnes-senac","Spanish_GARD_Synonym__c":"síndrome de displasia esquelética-braquidactilia","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":"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.","Curated_Disease_Description_Source__c":"MONDO:0010538","GARD_Synonym__c":"brachydactyly, mononen type; mononen type brachydactyly; short and abducted thumbs and great toes; skeletal dysplasia-brachydactyly syndrome","Name":"Mononen-Karnes-Senac 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":"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:2565"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2565"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2565","Source__c":"C1844919; MONDO:0010538","Xref__c":"ORPHA:2565"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733095006","Source__c":"MONDO:0010538","Xref__c":"733095006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110973","Source__c":"MONDO:0010538","Xref__c":"DOID:0110973"},{"URL__c":"https://www.omim.org/entry/301940","Source__c":"C1844919; MONDO:0010538; ORPHA:2565","Xref__c":"OMIM:301940"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336815","Source__c":"C1844919","Xref__c":"MEDGEN:336815"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844919","Source__c":"C1844919","Xref__c":"C1844919"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535914","Source__c":"MONDO:0010538","Xref__c":"C535914"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010538","Source__c":"GARD:0004886","Xref__c":"MONDO:0010538"}],"Inheritance__c":["X-linked dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["brachydactyly, mononen type"," mononen type brachydactyly"," short and abducted thumbs and great toes"," skeletal dysplasia-brachydactyly syndrome"]}