{"orpha":141265,"name":"Tessier number 6 facial cleft","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141265/","orphanet_url":"https://www.orpha.net/en/disease/detail/141265","names":{"fr":{"name":"Fente faciale 6 de Tessier","definition":"Fente faciale oblique rare située entre le maxillaire et l'os zygomatique avec atteinte de la fissure orbitaire inférieure, accompagnée d'un colobome de la paupière inférieur et d'un sillon sclérodermique vertical de la joue, orienté soit de manière latérale à la commissure des lèvres soit en direction de l'angle de la mandibule. La face postérieure du maxillaire est courte et on observe un palais haut et une atrésie choanale. La malformation est généralement associée au syndrome de Treacher-Collins."},"de":{"name":"Gesichtsspalte, Tessier 6","definition":"Eine seltene schräge Gesichtsspalte, die durch einen Defekt zwischen dem Oberkiefer und dem Jochbein gekennzeichnet ist, der in die Infraorbitalspalte mündet, begleitet von einem Kolobom des Unterlids und einer vertikalen Furche auf der Wange, die entweder seitlich zum Mundwinkel oder in Richtung des Unterkieferwinkels verläuft. Der hintere Teil des Oberkiefers ist kurz mit einem hohen Gaumen und einer Choanal-Atresie. Die Fehlbildung ist typischerweise mit dem Treacher-Collins-Syndrom verbunden."},"es":{"name":"Hendidura facial número 6 de Tessier","definition":"Es una hendidura facial oblicua poco frecuente caracterizada por un defecto entre el maxilar y el hueso cigomático, que se extiende hacia la fisura orbitaria inferior, acompañado de coloboma del párpado inferior y de un surco vertical en la mejilla orientado lateralmente a la comisura de la boca o paralelo al ángulo mandibular. La cara posterior del maxilar está acortada, con paladar ojival y atresia de coanas. La malformación se asocia típicamente al síndrome de Treacher-Collins."},"it":{"name":"Schisi facciale di Tessier, numero 6","definition":"Si tratta di una schisi facciale obliqua rara, caratterizzata da un difetto tra la mascella e lo zigomo, che si apre nella fessura infraorbitale, associato al coloboma della palpebra inferiore e ad un solco verticale sulla guancia orientato lateralmente verso l'angolo della bocca oppure verso l'angolo della mandibola. La porzione posteriore della mascella è corta, con palato ogivale e atresia delle coane. Di solito la malformazione si associa alla sindrome di Treacher-Collins."},"nl":{"name":"Aangezichtsspleet Tessier nummer 6","definition":"Een zeldzame schuine aangezichtsspleet, gekenmerkt door een defect tussen bovenkaak en jukbeen dat opent in de onderste oogkasspleet (fissura orbitalis inferior), vergezeld van coloboom van onderste ooglid en een verticale groef op de wang die lateraal in de richting van de mondhoek loopt, of in de richting van de hoek van de onderkaak. Het achterste deel van de bovenkaak is kort, met een hoog gehemelte en choanale atresie. De malformatie is doorgaans geassocieerd met syndroom van Treacher-Collins."},"pt":{"name":"Fenda facial número 6 de Tessier"},"pl":{"name":"Rozszczep twarzy numer 6 wg Tessiera"},"cs":{"name":"Rozštěp obličeje číslo 6 dle Tessiera"},"uk":{"name":"Розщілина обличчя Тессьє №6","definition":"A rare oblique facial cleft characterized by a defect between the maxilla and the zygomatic bone, opening into the infra-orbital fissure, accompanied by coloboma of the lower eyelid and a vertical furrow on the cheek oriented either laterally to the corner of the mouth or in the direction of the angle of the mandible. The posterior aspect of the maxilla is short with a high palate and choanal atresia. The malformation is typically associated with Treacher-Collins syndrome."},"zh":{"name":"Tessier6型面裂"},"tr":{"name":"Tessier 6 numaralı yüz yarığı"}},"xrefs":[{"source":"ICD-10","code":"Q18.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1934815559"},{"source":"MONDO","code":"0015417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":141253,"name":"Oblique facial cleft","classifications":[147,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}