{"orpha":231742,"name":"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231742/","orphanet_url":"https://www.orpha.net/en/disease/detail/231742","names":{"fr":{"name":"Syndrome de lipodermoïde du globe oculaire-excroissance préauriculaire-polythélie","definition":"Syndrome des arcs branchiaux décrit dans une fratrie de sept enfants d'une famille danoise. Il se caractérise par des mamelons surnuméraires (polythélie), des appendices pré-auriculaires et souvent des lipodermoïdes épibulbaires bilatéraux ou des lipodermoïdes sous-conjonctivaux unilatéraux."},"de":{"name":"Epibulbäre Lipodermoid-präaurikuläre Anhänge-Polythelie-Syndrom","definition":"Epibulbäres Lipodermoid - präaurikuläre Anhänge - Polythelie ist ein Kiemenbogen-Syndrom, das bei 7 Geschwistern einer dänischen Familie beschrieben wurde. Charakteristisch sind überzählige Brustwarzen (Polythelie), präaurikuläre Anhänge und oft beidseitige epibulbäre Lipodermoide oder einseitige subkonjunktivale Lipodermoide."},"es":{"name":"Síndrome de lipodermoide epibulbar-apéndice preauricular-politelia","definition":"El síndrome lipodermoide epibulbar - apéndice preauricular - politelia es un síndrome del arco branquial descrito en siete hermanos de una familia danesa y se caracteriza por pezones supernumerarios (politelia), apéndices preauriculares y a menudo lipodermoides epibulbares o lipodermoides subconjuntivales."},"it":{"name":"Lipodermoide epibulbare - appendice preauricolare - politelia","definition":"Il lipodermoide epibulbare - appendici preauricolari - politelia è una sindrome dell'arco branchiale descritta in sette fratelli di una famiglia danese; è caratterizzata da capezzoli soprannumerari (politelia), appendici preauricolari e, spesso, lipodermoidi epibulbari binoculari o lipodermoidi sottocongiuntivali monolaterali."},"nl":{"name":"Epibulbair lipodermoïd - preauriculair aanhangsel - polythelie-syndroom","definition":"Een kieuwboogsyndroom beschreven bij zeven broers/zussen uit één Deense familie, gekenmerkt door accessoire tepels (polythelie), preauriculaire aanhangsels, en vaak binoculaire epibulbaire lipodermoïden of unilaterale subconjunctivale lipodermoïden."},"pt":{"name":"Lipodermóide epibulbar - apendice pré-auricular - politelia"},"pl":{"name":"Lipodermoid nagałkowy - wyrostki przeduszne - dodatkowe brodawki sutkowe"},"cs":{"name":"Syndrom zahrnující epibulbární lipodermoid, preaurikulární přívěsek a polytelii"},"uk":{"name":"Синдром епібульбарного ліподермоїду-преаурикулярного придатку-додаткових сосків","definition":"Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids."},"zh":{"name":"眼球脂质皮样囊肿-耳前附件-多乳头综合征","definition":"眼球表面结膜脂肪皮样囊肿-耳前附肢-多乳头症是一种鳃弓综合征，既往报道出现于一个丹麦家庭的七个兄弟姐妹中，其特征是额外的乳头（多乳头）、耳前附属物、常为双侧的眼球表面结膜脂肪皮样囊肿或单侧结膜下脂肪皮样囊肿。"},"tr":{"name":"Epibulbar lipodermoid-preauriküler apendaj-politeli sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"20450310[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20450310[PMID]"}],"phenotypes":null}