{"Name":"Familial clubfoot with or without associated lower limb anomalies","DiseaseID__c":"GARD:0017093","id":17093,"encodedName":"familial-clubfoot-with-or-without-associated-lower-limb-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Familial clubfoot with or without associated lower limb anomalies","Xref_IDs__c":"C5680522; MEDGEN:1843133; MONDO:0016046; ORPHA:199315","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016046","Disease_Description__c":"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","GARD_Name__c":"Familial clubfoot with or without associated lower limb anomalies","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0016046","Curated_Disease_Description__c":"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:199315","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016046","ORPHANET_ID__c":"ORPHA:199315","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pie zambo familiar con o sin anomalías de las extremidades inferiores","Spanish_Description_Source__c":"ORPHA:199315","Spanish_Description__c":"El pie zambo familiar con o sin anomalías de las extremidades inferiores es un síndrome de malformaciones congénitas poco frecuente de las extremidades caracterizado por una mala alineación de los huesos y articulaciones del pie y tobillo, con presencia de aductos del antepié y mediopié, retropié varo y tobillo equino, presentándose como pie en rotación interna rígida hacia la línea media, en varios miembros de una misma familia. Se asocia con frecuencia a hipoplasia de los músculos inferiores de la pierna. Los afectados pueden presentar otras malformaciones de miembros inferiores, tales como hipoplasia de la rótula, astrágalo oblicuo, hemimelia tibial y polidactilia.","Spanish_Disease_Name__c":"pie zambo familiar con o sin anomalías de las extremidades inferiores","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":"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","Curated_Disease_Description_Source__c":"MONDO:0016046","Name":"Familial clubfoot with or without associated lower limb anomalies","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:199315"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:199315"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843133","Source__c":"C5680522","Xref__c":"MEDGEN:1843133"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680522","Source__c":"C5680522","Xref__c":"C5680522"},{"URL__c":"https://www.orpha.net/en/disease/detail/199315","Source__c":"C5680522; MONDO:0016046; ORPHA:199315","Xref__c":"ORPHA:199315"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016046","Source__c":"GARD:0017093","Xref__c":"MONDO:0016046"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":[""]}