{"orpha":1892,"name":"Ectrodactyly-polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1892/","orphanet_url":"https://www.orpha.net/en/disease/detail/1892","names":{"fr":{"name":"Syndrome d'ectrodactylie-polydactylie","definition":"Anomalie congénitale rare des membres, caractérisée par une hypoplasie ou une absence des rayons digitaux centraux des mains et/ou des pieds et la présence d'un ou plusieurs doigts surnuméraires, unilatéraux ou bilatéraux, sur les rayons postaxiaux, allant de doigts hypoplasiques dépourvus de structures osseuses à la duplication complète d'un doigt. Des cas de syndactylie cutanée, de symphalangisme et de clinodactylie ont également été rapportés. Aucun cas n'a été décrit dans la littérature depuis 1982."},"de":{"name":"Ektrodaktylie-Polydaktylie-Syndrom"},"es":{"name":"Síndrome de ectrodactilia-polidactilia","definition":"Es un trastorno malformativo de las extremidades, congénito, genético y poco frecuente, caracterizado por hipoplasia o ausencia de los rayos digitales centrales de las manos y/o pies y presencia de uno o más dedos supernumerarios, uni- o bilaterales en los rayos postaxiales, que varían desde dedos hipoplásicos sin estructuras óseas hasta la duplicación completa de un dedo. También se ha descrito sindactilia cutánea, sinfalangismo y clinodactilia. No se han descrito nuevos casos en la literatura desde 1982."},"it":{"name":"Sindrome ectrodattilia-polidattilia","definition":"La sindrome che associa ectrodattilia e polidattilia è una malformazione congenita rara degli arti, di origine genetica, caratterizzata da ipoplasia o aplasia dei raggi centrali delle dita delle mani e/o dei piedi, associata alla presenza mono- o bi-laterale di uno o più dita in soprannumero nei raggi postassiali, che possono comprendere dita ipoplastiche prive di strutture ossee, fino alla completa duplicazione di un dito. Possono associarsi sindattilia cutanea, sinfalangismo e clinodattilia. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Ectrodactylie - polydactylie-syndroom","definition":"Ectrodactylie - polydactylie-syndroom is een zeldzame, genetische, congenitale malformatie van de ledematen die gekarakteriseerd wordt door hypoplasie of afwezigheid van de centrale stralen van de handen en/of voeten en de aanwezigheid, unilateraal of bilateraal, van een of meer overtollige vingers/tenen op postaxiale stralen, gaande van hypoplastische vingers/tenen zonder osseuze structuren tot volledige duplicatie van een vinger/teen. Cutane syndactylie, symfalangisme en clinodactylie werden ook reeds gerapporteerd. Sinds 1982 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ectrodactilia-polidactilia"},"pl":{"name":"Ektrodaktylia - polidaktylia"},"cs":{"name":"Syndrom zahrnující ektrodaktylii a polydaktylii"},"uk":{"name":"Синдром ектродактилії-полідактилії","definition":"Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982."},"zh":{"name":"缺指（趾）-多指（趾）综合征"},"tr":{"name":"Ektrodaktili-polidaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"225290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q69.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749762","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2068","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"7151304[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7151304[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null}]}}