{"Name":"Hallux varus-preaxial polysyndactyly syndrome","DiseaseID__c":"GARD:0003118","id":3118,"encodedName":"hallux-varus-preaxial-polysyndactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hallux varus-preaxial polysyndactyly syndrome","Xref_IDs__c":"C1856197; C536885; MEDGEN:341088; MONDO:0009321; OMIM:234280; ORPHA:2110","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009321","Disease_Description__c":"Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.","GARD_Name__c":"Hallux varus-preaxial polysyndactyly syndrome","GARD_Synonym__c":"hallux varus and preaxial polysyndactyly; hallux varus, preaxial polysyndactyly syndrome; kleiner holmes syndrome; kleiner-holmes syndrome","Curated_Disease_Description_Source__c":"MONDO:0009321","Curated_Disease_Description__c":"Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2110","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009321","ORPHANET_ID__c":"ORPHA:2110","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hallux varus-polisindactilia preaxial","Spanish_Description_Source__c":"ORPHA:2110","Spanish_Description__c":"Es un trastorno malformativo congénito de las extremidades, genético y poco frecuente, caracterizado por el desplazamiento medial bilateral del hallux y por polisindactilia preaxial en los primeros dedos de los pies. Las radiografías muestran los primeros metatarsianos anchos, acortados y malformados, también puede existir duplicación completa o incompleta de las falanges proximales así como duplicación o triplicación de las falanges distales. Desde 1980 no se han descrito más casos en la literatura.","Spanish_Disease_Name__c":"síndrome de hallux varus-polisindactilia preaxial","Spanish_GARD_Synonym__c":"síndrome de kleiner-holmes","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":"Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.","Curated_Disease_Description_Source__c":"MONDO:0009321","GARD_Synonym__c":"hallux varus and preaxial polysyndactyly; hallux varus, preaxial polysyndactyly syndrome; kleiner holmes syndrome; kleiner-holmes syndrome","Name":"Hallux varus-preaxial polysyndactyly 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:2110"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536885","Source__c":"MONDO:0009321","Xref__c":"C536885"},{"URL__c":"https://www.orpha.net/en/disease/detail/2110","Source__c":"C1856197; MONDO:0009321; ORPHA:2110","Xref__c":"ORPHA:2110"},{"URL__c":"https://www.omim.org/entry/234280","Source__c":"C1856197; MONDO:0009321; ORPHA:2110","Xref__c":"OMIM:234280"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341088","Source__c":"C1856197","Xref__c":"MEDGEN:341088"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856197","Source__c":"C1856197","Xref__c":"C1856197"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009321","Source__c":"GARD:0003118","Xref__c":"MONDO:0009321"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771180005","Source__c":"C1856197","Xref__c":"771180005"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2110","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A widely spaced gap between the first toe (the great toe) and the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001852","HPO_Synonym__c":"Gap between 1st and 2nd toes; Gap between first and second toe; Increased space between first and second toes; Sandal gap between first and second toes; Space between great toe and second toe; Wide space between 1st, 2nd toes; Wide space between first and second toes; Wide-spaced big toe; Widely spaced 1st-2nd toes; Widely spaced first and second toes; Widened gap 1st-2nd toes; Widened gap first and second toe","HPO_Name__c":"Sandal gap","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2110","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","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":["hallux varus and preaxial polysyndactyly"," hallux varus, preaxial polysyndactyly syndrome"," kleiner holmes syndrome"," kleiner-holmes syndrome"]}