{"orpha":295014,"name":"Familial isolated clinodactyly of fingers","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295014/","orphanet_url":"https://www.orpha.net/en/disease/detail/295014","names":{"fr":{"name":"Clinodactylie des doigts familiale isolée","definition":"La clinodactylie des doigts familiale isolée est un trouble génétique malformatif congénital rare des membres, non syndromique, caractérisé par une angulation d'un doigt sur le plan radio-ulnaire (coronal), loin de l'axe de flexion-extension de l'articulation, et affectant plusieurs membres d'une même famille sans autres manifestations associées. La déviation est généralement bilatérale et touche généralement le cinquième doigt. Les doigts atteints présentent des phalanges de type « delta » ou de forme trapézoïdale à l'imagerie."},"de":{"name":"Isolierte Klinodaktylie der Finger, familiäre Form","definition":"Die familiäre isolierte Klinodaktylie der Finger ist eine seltene, genetisch bedingte, nicht-syndromale, angeborene Gliedmaßenfehlbildung ohne andere assoziierte Manifestationen, die bei mehreren Mitgliedern einer einzelnen Familie auftritt. Sie ist gekennzeichnet durch eine Abwinklung eines Fingers in der radio-ulnaren (koronalen) Ebene, weg von der Achse der Gelenkbeugung/-streckung. Die Abweichung ist meist beidseitig und betrifft häufig den fünften Finger. Die betroffenen Finger zeigen in der Bildgebung trapezförmige oder deltaförmige Phalangen."},"es":{"name":"Clinodactilia familiar aislada de los dedos de la mano","definition":"La clinodactilia aislada familiar de los dedos de las manos es un trastorno congénito de malformación de las extremidades no-sindrómico, genético y poco frecuente, que se caracteriza por la angulación de un dedo en el plano radiocubital (coronal), alejándose del eje de flexión-extensión articular, en varios miembros de una sola familia, sin otras manifestaciones asociadas. La desviación es habitualmente bilateral y, por lo general, afecta al quinto dedo. Los dedos afectados presentan falanges de forma trapezoidal o triangular (delta) en las imágenes médicas."},"it":{"name":"Clinodattilia isolata familiare delle dita delle mani","definition":"La clinodattilia isolata familiare delle dita delle mani è una malformazione rara congenita e non sindromica degli arti, di origine genetica, presente in più membri della stessa famiglia. È caratterizzata dalla curvatura di un dito sul piano radio-ulnare (coronale), che devia dall'asse della flessione-estensione dell'articolazione, in assenza di altri segni clinici. Di solito la deviazione è bilaterale e interessa il quinto dito. Le dita interessate presentano falangi trapezoidali o a forma di delta, così come evidenziato dalla diagnostica per immagini."},"nl":{"name":"Familiale geïsoleerde clinodactylie van vinger","definition":"Familiale geïsoleerde clinodactylie van de vingers is een zeldzame, genetische, niet-syndromale, congenitale malformatie van de ledematen die gekarakteriseerd wordt door angulatie van een vinger in het radio-ulnaire (coronale) vlak, weg van de as van flexie-extensie van het gewricht, in verscheidene leden van een enkele familie zonder andere geassocieerde manifestaties. De afwijking is meestal bilateraal en treft doorgaans de vijfde vinger. Getroffen vingers vertonen trapezoïdale of deltavormige falangen bij beeldvorming."},"pt":{"name":"Clinodactilia isolada familiar dos dedos da mão"},"pl":{"name":"Rodzinna izolowana klinodaktylia palców dłoni"},"cs":{"name":"Familiární izolovaná klinodaktylie prstů ruky"},"uk":{"name":"Сімейна ізольована клинодактилія пальців рук","definition":"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging."},"zh":{"name":"家族性孤立性指曲畸形","definition":"家族孤立性手指屈指畸形是一种罕见的遗传性、非综合征性先天性肢体畸形，其特征是在一个家族的数个成员中，手指顶点处在远离关节屈伸轴的桡尺（冠状）平面成角，无其他相关表现。偏离常为双侧性，累及第五指。受累手指在影像上指骨呈梯形或三角形。"},"tr":{"name":"Ailesel izole klinodaktili parmaklar"}},"xrefs":[{"source":"ICD-10","code":"Q68.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB80.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706540","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294947,"name":"Congenital deformities of fingers","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}