{"orpha":295002,"name":"Isolated hyperphalangy","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital supernumerary phalanges","Supernumerary phalanx"],"definition":"Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295002/","orphanet_url":"https://www.orpha.net/en/disease/detail/295002","names":{"fr":{"name":"Hyperphalangie isolée","synonyms":["Phalange surnuméraire congénitale isolée"],"definition":"L'hyperphalangie est une malformation congénitale, non syndromique des membres, caractérisée par la présence de phalanges accessoires entre les métacarpes/métatarses et les phalanges proximales, ou entre les deux autres phalanges d'un doigt, à l'exception du pouce. L'hyperphalangie est presque toujours bilatérale. Les patients n'ont pas plus de cinq doigts et ne présentent pas d'autres anomalies squelettiques."},"de":{"name":"Hyperphalangie, isolierte","synonyms":["Isolierte angeborene überzählige Phalangen","Isoliertes überzähliges Finger-/Zehenglied"],"definition":"Die Hyperphalangie ist eine angeborene, nicht-syndromale Gliedmaßenfehlbildung, die gekennzeichnet ist durch das Vorhandensein einer zusätzlichen Gliedmaße zwischen Mittelhand/Metatarsale und proximalem Fingerglied oder zwischen zwei beliebigen anderen Fingergliedern eines Fingers, außer dem Daumen. Die Hypherphalangie ist fast immer bilateral und die Patienten weisen nicht mehr als fünf Finger und keine anderen skelettalen Anomalien auf."},"es":{"name":"Hiperfalangia aislada","synonyms":["Falange supernumeraria","Falanges supernumerarias congénitas aisladas"],"definition":"La hiperfalangia es una malformación congénita de las extremidades, caracterizada por la presencia de una falange accesoria, entre el metacarpo/metatarso y la falange proximal, o entre cualquiera de las otras dos falanges de un dedo, excluyendo el pulgar. La hiperfalangia es casi siempre bilateral, y los afectados no presentan polidactilia (dedo extra) ni ninguna otra anomalía esquelética."},"it":{"name":"Iperfalangia isolata","synonyms":["Falange soprannumeraria","Falangi congenite isolate soprannumerarie"],"definition":"L'iperfalangia è una malformazione congenita non sindromica degli arti, caratterizzata dalla presenza di una falange soprannumeraria, tra la falange metacarpale/metatarsale e la falange prossimale, oppure tra altre due falangi di un dito, ad esclusione del pollice. L'iperfalangia è quasi sempre bilaterale; i pazienti non presentano polidattilia né altre anomalie scheletriche."},"nl":{"name":"Geïsoleerde hyperfalangie","synonyms":["Geïsoleerde congenitale overtallige falangen","Geïsoleerde congenitale surnumeraire falangen","Surnumeraire falanx"],"definition":"Hyperfalangie is een congenitale, niet-syndromale malformatie van de ledematen die gekarakteriseerd wordt door de aanwezigheid van een bijkomstig kootje tussen een metacarpaal/metatarsaal en proximaal kootje, of tussen elke twee andere kootjes van een vinger, behalve de duim. Hyperfalangie is bijna altijd bilateraal en patiënten vertonen niet meer dan vijf vingers, noch enige andere skeletale anomalieën."},"pt":{"name":"Hiperfalangismo isolado","synonyms":["Falange supernumerária isolada congénita","Falanges supernumerárias"]},"pl":{"name":"Paliczki dodatkowe","synonyms":["Paliczek dodatkowy","Paliczki dodatkowe","Izolowana hiperfalangia"]},"cs":{"name":"Hyperfalangie","synonyms":["Nadpočetné články prstů","Nadpočetný článek prstu"]},"uk":{"name":"Ізольована гіперфалангія","synonyms":["Ізольовані вроджені додаткові фаланги","Додаткова фаланга"],"definition":"Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies."},"zh":{"name":"多指/趾","synonyms":["多指/趾骨"],"definition":"多指是一种先天性非综合征性肢体畸形，其特征是在掌骨/跖骨和近节指骨间，或任意两指骨间存在副指骨，拇指除外。多指几乎均为双侧性，患者不多于5个手指，无其他骨骼畸形。"},"tr":{"name":"Hiperfalanji","synonyms":["Süpernümerari falanks","Süpernümerari falankslar"]}},"xrefs":[{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB77","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"177215174"},{"source":"MONDO","code":"0017455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295140,"name":"OBSOLETE: Hyperphalangy, unilateral","status":"inactive"},{"type":"Referred to","orpha":295142,"name":"OBSOLETE: Hyperphalangy, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93458,"name":"Non-syndromic polydactyly, syndactyly and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}