{"orpha":99170,"name":"Tarsal kink syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99170/","orphanet_url":"https://www.orpha.net/en/disease/detail/99170","names":{"fr":{"name":"Syndrome tarsal kink","definition":"Le syndrome tarsal king est une malformation congénitale rare du tarse palpébral qui cause un entropion caractérisé par un blépharospasme et l'absence de pli au niveau de la paupière supérieure. Cela peut conduire à une ulcération de la cornée (due au repli du tarse supérieur ou à des cils orientés vers l'intérieur) en absence de correction chirurgicale."},"de":{"name":"Syndrom der genickten Lidplatte"},"es":{"name":"Síndrome del tarso torcido","definition":"El síndrome del tarso torcido es una malformación congénita poco frecuente del tarso que causa entropión. Se caracteriza por blefaroespasmo y ausencia de un pliegue del párpado superior que, si no se corrige quirúrgicamente, puede conducir a una ulceración de la córnea causada por el borde doblado del tarso superior o por las pestañas vueltas hacia adentro."},"it":{"name":"Sindrome del nodo tarsale","definition":"La sindrome del nodo tarsale è una malformazione congenita rara del tarso, che causa entropion con blefarospasmo e assenza della piega della palpebra superiore che, in assenza di correzione chirurgica, può esitare in un'ulcera corneale, da ripiegamento del margine del tarso superiore o da ciglia rivolte all'interno dell'occhio."},"nl":{"name":"Tarsale kink-syndroom","definition":"Tarsale kink-syndroom is een zeldzame congenitale misvorming van de bindweefselplaat van het ooglid (tarsus) die een entropion veroorzaakt en gekarakteriseerd wordt door blefarospasme en de afwezigheid van een plooi in het bovenste ooglid, wat kan leiden tot ulceratieve hoornvliesontsteking veroorzaakt door de geplooide rand van de bovenste tarsus of de naar binnen gekeerde wimpers indien het niet chirurgisch wordt gecorrigeerd."},"pt":{"name":"Síndrome torção tarsíca"},"pl":{"name":"Zespół węzła tarczki"},"cs":{"name":"Syndrom zvlněné tarzální ploténky"},"uk":{"name":"Синдром тарзального залому","definition":"Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery."},"zh":{"name":"睑板扭结综合征","definition":"睑板扭结综合征是一种罕见的睑板先天畸形，导致睑内翻，其特征是眼睑痉挛和上睑皱褶缺失，如果不手术矫正，可能会因上睑板边缘折叠或睫毛内翻而导致角膜溃疡。"},"tr":{"name":"Tarsal kink sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0020462","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1303000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519270,"name":"Rare disorder with entropion","classifications":[147,189]},{"orpha":522530,"name":"Rare genetic disorder with entropion","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}