{"orpha":3259,"name":"Syndactyly-polydactyly-ear lobe syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3259/","orphanet_url":"https://www.orpha.net/en/disease/detail/3259","names":{"fr":{"name":"Syndrome de syndactylie-polydactylie-lobe d'oreille anormal","definition":"Anomalie congénitale rare des membres, d'origine génétique, caractérisée par une syndactylie cutanée complète entre le premier et le deuxième orteils, une polydactylie ulnaire (allant d'un petit bout de doigt rudimentaire à un doigt supplémentaire presque complet) et des malformations du lobe de l'oreille. La radiographie permet, par ailleurs, de mettre en évidence des anomalies siégeant le long du bord médial du pied. Aucun cas n'a été décrit dans la littérature depuis 1976."},"de":{"name":"Syndaktylie-Polydaktylie-Ohrmuschel-Syndrom"},"es":{"name":"Síndrome de sindactilia-polidactilia-lóbulo auditivo anómalo","definition":"Es un síndrome malformativo de las extremidades congénito, poco frecuente y genético, caracterizado por sindactilia cutánea completa de los dedos 1 y 2 del pie, polidactilia cubital (que va desde muñones hasta un dedo adicional casi completo) y malformaciones del lóbulo de la oreja. Asimismo, se observan anomalías a lo largo del borde medial del pie en imágenes de rayos X. No ha habido más casos descritos en la literatura desde 1976."},"it":{"name":"Sindrome da sindattilia, polidattilia e anomalie del lobo dell'orecchio","definition":"È una malformazione congenita rara degli arti, di origine genetica, caratterizzata da sindattilia cutanea completa tra il primo e il secondo dito del piede, polidattilia ulnare (che comprende la presenza di protuberanze fino ad un dito soprannumerario completo) e malformazioni del lobo dell'orecchio. Le radiografie evidenziano anomalie lungo il bordo mediale del piede. Non sono stati descritti nuovi casi dopo il 1976."},"nl":{"name":"Syndactylie - polydactylie - oorlel-syndroom","definition":"Een zeldzaam, genetisch, congenitaal malformatiesyndroom van de ledematen dat gekarakteriseerd wordt door volledige cutane syndactylie tussen tenen 1-2, ulnaire polydactylie (gaande van stompjes tot een bijna volledige extra vinger) en malformaties van de oorlellen. Bijkomend worden afwijkingen langs de mediale grens van de voet waargenomen bij radiografie. Sinds 1976 zijn er geen bijkomende beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome de sindactilia-polidactilia-lóbulo auricular"},"pl":{"name":"Zespół syndaktylia-polidaktylia-płatek ucha"},"cs":{"name":"Syndrom zahrnující syndaktylii, polydaktylii a postižení ušního lalůčku"},"uk":{"name":"Синдром синдактилії-полідактилії-аномалії мочки вуха","definition":"A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976."},"zh":{"name":"并指（趾）畸形-多指（趾）畸形-耳垂综合症"},"tr":{"name":"Sindaktili-polidaktili-kulak lobu sendromu"}},"xrefs":[{"source":"OMIM","code":"186350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008517","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191039","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5090","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"182299[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_182299[PMID]"}],"phenotypes":null}