{"orpha":295047,"name":"Macrodactyly of toes","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Macrodactyly of foot"],"definition":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295047/","orphanet_url":"https://www.orpha.net/en/disease/detail/295047","names":{"fr":{"name":"Macrodactylie des orteils","synonyms":["Macrodactylie du pied"],"definition":"Croissance excessive des membres rare, non syndromique, caractérisée par une hypertrophie congénitale isolée de certains ou de l'ensemble des tissus d'un ou de plusieurs orteils d'un pied. L'hypertrophie peut être progressive avec une croissance disproportionnée ou statique avec une croissance proportionnée et peut être unilatérale ou bilatérale. Elle se manifeste généralement dans la région d'un nerf périphérique, le nerf lui-même étant allongé et son diamètre augmenté."},"de":{"name":"Makrodaktylie der Zehen","synonyms":["Makrodaktylie des Fußes"],"definition":"Eine seltene nicht-syndromale Gliedmaßenvergrößerung, die durch eine isolierte angeborene Vergrößerung einiger oder aller Gewebeelemente einer oder mehrerer Zehen eines Fußes gekennzeichnet ist. Die Vergrößerung kann progressiv mit disproportionalem oder statischem proportionalem Wachstum und ein- oder beidseitig sein. Sie tritt typischerweise im Bereich eines peripheren Nervs auf, wobei der Nerv selbst verlängert und im Durchmesser vergrößert ist."},"es":{"name":"Macrodactilia de los dedos del pie","synonyms":["Macrodactilia del pie"],"definition":"Es un sobrecrecimiento de las extremidades no sindrómico poco frecuente caracterizado por agrandamiento congénito aislado de algunos o todos los elementos del tejido de uno o más dedos del pie. El agrandamiento puede ser progresivo con crecimiento desproporcionado o estático con crecimiento proporcionado y puede ser uni- o bilateral. Por lo general, ocurre en el territorio de un nervio periférico, con alargamiento e incremento del diámetro del propio nervio."},"it":{"name":"Macrodattilia delle dita dei piedi","synonyms":["Macrodattilia dei piedi"],"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 di un piede. L'ingrossamento può essere progressivo con crescita sproporzionata, oppure statico con crescita proporzionata, e può essere mono- o bilaterale. Di solito si manifesta all'interno del territorio di un nervo periferico, con un allungamento e un aumento del diametro del nervo stesso."},"nl":{"name":"Macrodactylie van tenen","synonyms":["Macrodactylie van voet"],"definition":"Een zeldzame niet-syndromale overontwikkeling van ledemaat, gekarakteriseerd door geïsoleerde congenitale vergroting van sommige of alle weefselelementen van een of meerdere tenen. De vergroting kan progressief met disproportionele groei zijn, of statisch met proportionele groei, en kan unilateraal of bilateraal zijn. De aandoening treedt doorgaans op in het gebied van een perifere zenuw, waarbij de zenuw zelf een grotere lengte en diameter vertoont."},"pt":{"name":"Macrodactilia dos dedos do pé","synonyms":["Macrodactilia do pé"]},"pl":{"name":"Makrodaktylia palców stopy","synonyms":["Makrodaktylia stopy"]},"cs":{"name":"Makrodaktylie prstů nohy","synonyms":["Makrodaktylie nohy"]},"uk":{"name":"Макродактилія пальців ніг","synonyms":["Макродактилія стопи"],"definition":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter."},"zh":{"name":"巨趾症","synonyms":["巨趾畸形"],"definition":"一种罕见的非综合征性肢体过度生长，其特征是一趾或多趾部分或整个孤立性先天性增大。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。常发生于周围神经区域，神经被拉长且直径增大。"},"tr":{"name":"Ayak parmakların makrodaktilisi","synonyms":["Makrodaktili ayak"]}},"xrefs":[{"source":"OMIM","code":"155500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LB97.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1196147958"},{"source":"MONDO","code":"0017475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158768","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6951","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":295245,"name":"Macrodactyly of toes, bilateral","type":"Clinical subtype"},{"orpha":295243,"name":"Macrodactyly of toes, 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":"24782230[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"],"via":{"orpha":295243,"name":"Macrodactyly of toes, unilateral"}}],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Worldwide","status":"Validated","source":"39062202[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-07","source":"36175329[PMID]_33557883[PMID]","terms":[{"hpo":"HP:0100747","label":"Macrodactyly of toe","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010165","label":"Enlarged epiphyses of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008371","label":"Abnormal metatarsal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008108","label":"Advanced tarsal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001783","label":"Broad metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008082","label":"Medial deviation of the foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}