{"orpha":295044,"name":"Macrodactyly of fingers","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Macrodactyly of hand"],"definition":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295044/","orphanet_url":"https://www.orpha.net/en/disease/detail/295044","names":{"fr":{"name":"Macrodactylie des doigts","synonyms":["Macrodactylie de la main"],"definition":"Croissance excessive rare, non syndromique, congénitale et isolée des membres, caractérisée par une augmentation de la taille de tous les éléments tissulaires d'un ou de plusieurs doigts de la main, affectant généralement les nerfs périphériques innervant la région, se traduisant par une élongation et un épaississement de ces derniers. Elle touche le plus souvent l'index, et lorsqu'elle atteint deux ou plusieurs doigts, il s'agit toujours des doigts adjacents. Lorsqu'elle est progressive, les doigts grandissent de manière disproportionnée et lorsqu'elle est statique, les doigts atteints grandissent parallèlement à la croissance des autres doigts, l'atteinte pouvant être unilatérale ou bilatérale. Les patients peuvent ressentir des douleurs et observent une faible amplitude des mouvements."},"de":{"name":"Makrodaktylie der Finger","synonyms":["Makrodaktylie der Hand"],"definition":"Eine seltene nicht-syndromale Extremitätenfehlbildung, die durch eine isolierte angeborene Vergrößerung (Riesenwuchs) einiger oder aller Gewebeelemente eines oder mehrerer Finger der Hand gekennzeichnet ist, typischerweise im Bereich eines peripheren Nervs, wobei der Nerv selbst verlängert und im Durchmesser vergrößert ist. Am häufigsten ist der Zeigefinger betroffen. Wenn zwei oder mehr Finger betroffen sind, liegen diese immer nebeneinander. Die Vergrößerung kann fortschreitend sein, mit überproportionalem oder statischem Wachstum, und sie kann ein- oder beidseitig sein. Die Patienten können Schmerzen und eine eingeschränkte Beweglichkeit verspüren."},"es":{"name":"Macrodactilia de los dedos de la mano","synonyms":["Macrodactilia de la mano"],"definition":"Es un sobrecrecimiento no sindrómico de las extremidades poco frecuente caracterizado por agrandamiento congénito aislado de algunos o todos los elementos tisulares de uno o más dedos de la mano, habitualmente en el territorio de un nervio periférico con alargamiento y aumento del diámetro del propio nervio. El dedo índice es el más comúnmente afectado. Cuando hay dos o más dedos afectados, estos siempre son adyacentes. El agrandamiento puede ser progresivo con crecimiento desproporcionado, o estático con crecimiento proporcionado, y puede ser uni- o bilateral. Los pacientes pueden experimentar dolor y reducción del rango de movimiento."},"it":{"name":"Macrodattilia delle dita delle mani","synonyms":["Macrodattilia delle mani"],"definition":"Si tratta di un iperaccrescimento raro non sindromico degli arti, caratterizzato da un ingrossamento congenito isolato di alcuni o di tutti gli elementi tissutali di uno o più dita della mano, di solito all'interno del territorio di un nervo periferico, con un allungamento e un aumento del diametro del nervo stesso. Il dito indice è maggiormente interessato. Se sono interessate due o più dita, esse sono sempre adiacenti. L'ingrossamento può essere progressivo con crescita sproporzionata, oppure statico con crescita proporzionata, e può essere mono- o bilaterale. I pazienti possono presentare dolore e limitazione della mobilità."},"nl":{"name":"Macrodactylie van vingers","synonyms":["Macrodactylie van hand"],"definition":"Een zeldzame niet-syndromale overgroei van ledemaat, gekarakteriseerd door geïsoleerde congenitale vergroting van sommige of alle weefselelementen van een of meer digiti van hand, doorgaans binnen het gebied van een perifere zenuw, met elongatie en toename in diameter van de zenuw zelf. De wijsvinger wordt het vaakst getroffen. Indien twee of meer vingers betrokken zijn, zijn ze altijd aangrenzend. De vergroting kan progressief met disproportionele groei zijn, of statisch met proportionele groei, en kan unilateraal of bilateraal zijn. Mogelijk ervaren patiënten pijn en verminderd bewegingsbereik."},"pt":{"name":"Macrodactilia dos dedos da mão","synonyms":["Macrodactilia da mão"]},"pl":{"name":"Makrodaktylia palców dłoni","synonyms":["Makrodaktylia dłoni"]},"cs":{"name":"Makrodaktylie prstů ruky","synonyms":["Makrodaktylie ruky"]},"uk":{"name":"Макродактилія пальців рук","synonyms":["Макродактилія кисті"],"definition":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion."},"zh":{"name":"巨指症","synonyms":["巨指畸形"],"definition":"一种罕见的非综合征性肢体过度生长，其特征是一指或多指部分或整个孤立性先天性增大，常发生于周围神经区域，神经被拉长且直径增大。食指最常受累。如果累及两个或两个以上相邻手指。扩大可为进行性且不成比例，也可为静止性且成比例，可为单侧或双侧。患者可有疼痛和活动范围缩小。"},"tr":{"name":"Parmak makrodaktilisi","synonyms":["Makrodaktili el"]}},"xrefs":[{"source":"OMIM","code":"155500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB97.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1647254435"},{"source":"MONDO","code":"0017474","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574044","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8529","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294953,"name":"Non-syndromic limb overgrowth","classifications":[147,156]}],"children":[{"orpha":295241,"name":"Macrodactyly of fingers, bilateral","type":"Clinical subtype"},{"orpha":295239,"name":"Macrodactyly of fingers, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23100325[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"],"via":{"orpha":295239,"name":"Macrodactyly of fingers, unilateral"}}],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"39062202[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-05","source":"37846420[PMID]_36175329[PMID]_32299688[PMID]","terms":[{"hpo":"HP:0100746","label":"Macrodactyly of finger","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004276","label":"Exostoses of hand bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012186","label":"Entrapment neuropathy of the ulnar nerve at elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010493","label":"Long metacarpals","frequency":"Occasional (29-5%)","criteria":null}]}}