{"Name":"Congenital vertical talus","DiseaseID__c":"GARD:0005488","id":5488,"encodedName":"congenital-vertical-talus","IsDeleted":false,"Disease_Name_Full__c":"Congenital vertical talus","Xref_IDs__c":"205082007; C0240912; C536345; DOID:0111568; MEDGEN:66821; MONDO:0008652; OMIM:192950; ORPHA:178382","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008652","Disease_Description__c":"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.","GARD_Name__c":"Congenital vertical talus","GARD_Synonym__c":"charcot-marie-tooth disease, foot deformity of; congenital convex foot; congenital convex pes valgus; congenital rocker-bottom foot; convex pes valgus; cvt - congenital vertical talus; pes valgus, congenital convex; rocker bottom feet; rocker bottom foot; rocker-bottom feet; rocker-bottom foot deformity; rockerbottom feet","Curated_Disease_Description_Source__c":"GARD:0005488","Curated_Disease_Description__c":"Congenital vertical talus, sometimes called \"rocker-bottom foot,\" is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and has no arch (flatfoot), usually curving outward like the bottom of a rocker. One or both feet may be affected. The underlying cause of vertical talus is usually not known. It can occur by itself (isolated) or may be associated with a genetic syndrome or neuromuscular disorder. Rare familial cases have been reported, some due to a genetic change in a gene called HOXD10.","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:178382","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008652","ORPHANET_ID__c":"ORPHA:178382","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Astrágalo vertical congénito","Spanish_Description_Source__c":"ORPHA:178382","Spanish_Description__c":"El astrágalo vertical congénito aislado (TVC) es una deformidad del pie poco frecuente reconocible al nacimiento por una luxación de la articulación talonavicular, que resulta en una orientación casi vertical del astrágalo característica en la radiografía.","Spanish_Disease_Name__c":"astrágalo vertical congénito","Spanish_GARD_Synonym__c":"pie convexo congénito; pie en mecedora congénito; pie valgo convexo congénito","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":"Congenital vertical talus, sometimes called \"rocker-bottom foot,\" is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and has no arch (flatfoot), usually curving outward like the bottom of a rocker. One or both feet may be affected. The underlying cause of vertical talus is usually not known. It can occur by itself (isolated) or may be associated with a genetic syndrome or neuromuscular disorder. Rare familial cases have been reported, some due to a genetic change in a gene called HOXD10.","Curated_Disease_Description_Source__c":"GARD:0005488","GARD_Synonym__c":"charcot-marie-tooth disease, foot deformity of; congenital convex foot; congenital convex pes valgus; congenital rocker-bottom foot; convex pes valgus; cvt - congenital vertical talus; pes valgus, congenital convex; rocker bottom feet; rocker bottom foot; rocker-bottom feet; rocker-bottom foot deformity; rockerbottom feet","Name":"Congenital vertical talus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"STEPS Worldwide","Website__c":"https://www.stepsworldwide.org/"}],"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:178382"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:178382"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0240912"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205082007","Source__c":"C0240912; MONDO:0008652","Xref__c":"205082007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111568","Source__c":"MONDO:0008652","Xref__c":"DOID:0111568"},{"URL__c":"https://www.orpha.net/en/disease/detail/178382","Source__c":"C0240912; MONDO:0008652; ORPHA:178382","Xref__c":"ORPHA:178382"},{"URL__c":"https://www.omim.org/entry/192950","Source__c":"C0240912; MONDO:0008652; ORPHA:178382","Xref__c":"OMIM:192950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536345","Source__c":"MONDO:0008652","Xref__c":"C536345"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66821","Source__c":"C0240912","Xref__c":"MEDGEN:66821"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0240912","Source__c":"C0240912","Xref__c":"C0240912"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008652","Source__c":"GARD:0005488","Xref__c":"MONDO:0008652"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001838","Source__c":"C0240912","Xref__c":"HP:0001838"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXD10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An outward deviation of the foot at the talocalcaneal or subtalar joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008081","HPO_Synonym__c":"Valgus foot deformity","HPO_Name__c":"Pes valgus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008138","HPO_Synonym__c":"Equinus deformity of the calcaneus; Hindfoot equinus","HPO_Name__c":"Equinus calcaneus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of both a prominent heel and a convex contour of the sole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001838","HPO_Synonym__c":"Congenital vertical talus; Rocker bottom feet; Rocker bottom foot; Rocker-bottom feet; Rockerbottom feet","HPO_Name__c":"Rocker bottom foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005684","HPO_Name__c":"Distal arthrogryposis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Displacement or malalignment of one or more joints in the lower extremity (leg).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030311","HPO_Synonym__c":"Dislocated leg joints","HPO_Name__c":"Lower extremity joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030268","HPO_Name__c":"Hyperplastic callus formation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the musculature of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001436","HPO_Synonym__c":"Abnormal foot muscles","HPO_Name__c":"Abnormality of the foot musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030840","HPO_Synonym__c":"Ankle pain","HPO_Name__c":"Ankle pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025238","HPO_Synonym__c":"Foot pain","HPO_Name__c":"Foot pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A contracture of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001771","HPO_Synonym__c":"Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon","HPO_Name__c":"Achilles tendon contracture","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":["charcot-marie-tooth disease, foot deformity of"," congenital convex foot"," congenital convex pes valgus"," congenital rocker-bottom foot"," convex pes valgus"," cvt - congenital vertical talus"," pes valgus, congenital convex"," rocker bottom feet"," rocker bottom foot"," rocker-bottom feet"," rocker-bottom foot deformity"," rockerbottom feet"]}