{"orpha":2110,"name":"Hallux varus-preaxial polysyndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Kleiner-Holmes syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2110/","orphanet_url":"https://www.orpha.net/en/disease/detail/2110","names":{"fr":{"name":"Syndrome d'hallux varus-polysyndactylie préaxiale","synonyms":["Syndrome de Kleiner-Holmes"],"definition":"Un trouble malformatif génétique, rare et congénital, affectant les membres. Il se caractérise par le déplacement bilatéral médian de l'hallux et par une polysyndactylie préaxiale des premiers orteils. La radiographie révèle des premiers métatarses larges, raccourcis et déformés. Elle peut aussi révéler une duplication complète ou incomplète des phalanges proximales, et une duplication ou une triplication des phalanges distales. Il n'y a pas eu de description ultérieure dans la littérature depuis 1980."},"de":{"name":"Hallux varus mit präaxialer Polysyndaktylie","synonyms":["Kleiner-Holmes-Syndrom"]},"es":{"name":"Síndrome de hallux varus-polisindactilia preaxial","synonyms":["Síndrome de Kleiner-Holmes"],"definition":"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."},"it":{"name":"Sindrome da alluce varo e polisindattilia preassiale","synonyms":["Sindrome di Kleiner Holmes"],"definition":"La sindrome che associa l'alluce varo e la polisindattilia preassiale è una malformazione congenita rara degli arti, di origine genetica, caratterizzata dalla dislocazione mediale bilaterale dell'alluce e da polisindattilia preassiale del primo dito del piede. Le radiografie mostrano un allargamento, un accorciamento e la deformità dei primi metatarsi, occasionalmente associati alla duplicazione incompleta o completa delle falangi prossimali e alla duplicazione o alla triplicazione delle falangi distali. Non sono stati descritti nuovi casi dopo il 1980."},"nl":{"name":"Hallux varus - preaxiale polysyndactylie-syndroom","synonyms":["Syndroom van Kleiner-Holmes"],"definition":"Hallux varus - preaxiale polysyndactylie-syndroom is een zeldzame, genetische, congenitale malformatie van de ledematen, en wordt gekarakteriseerd door bilaterale mediale verplaatsing van de grote teen en preaxiale polysyndactylie van de eerste tenen. Radiografie toont brede, verkorte, misvormde eerste metatarsalen en associeert mogelijk onvolledige of volledige duplicatie van proximale falangen en duplicatie of triplicatie van distale falangen. Sinds 1980 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Síndrome de hallux varus-polissindactilia pré-axial","synonyms":["Síndrome Kleiner-Holmes"]},"pl":{"name":"Paluch koślawy - polisyndaktylia przedosiowa","synonyms":["Zespół Kleinera i Holmesa"],"definition":"*Paluch koślawy - polisyndaktylia przedosiowa jest rzadkim, genetycznie uwarunkowanym, wrodzonym zaburzeniem rozwojowym kończyn, które charakteryzuje się obustronnym przesunięciem palucha przyśrodkowo i przedosiową polisyndaktylią (wielopalczastością) pierwszych palców stopy. Na zdjęciach radiologicznych widoczne jest szerokie, skrócone, zniekształcone pierwsze śródstopie; może towarzyszyć niepełne lub całkowite podwojenie bliższych (proksymalnych) paliczków oraz podwojenie lub potrojenie dalszych (dystalnych) paliczków. Od 1980 roku nie pojawiły się w literaturze nowe opisy tego zespołu."},"cs":{"name":"Syndrom zahrnující hallux varus a preaxiální polysyndaktylii","synonyms":["Kleinerův-Holmesův syndrom","Kleiner-Holmesův syndrom"]},"uk":{"name":"Синдром Hallux varus-преаксіальної полісиндактилії","synonyms":["Синдром Клейнера-Холмса"],"definition":"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."},"zh":{"name":"拇内翻-轴前多指（趾）综合征","synonyms":["Kleiner-Holmes综合征"]},"tr":{"name":"Halluks varus-preaksiyal polisindaktili sendrom","synonyms":["Kleiner-Holmes sendromu"]}},"xrefs":[{"source":"OMIM","code":"234280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009321","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856197","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6255798[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6255798[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null}]}}