{"orpha":141242,"name":"Paramedian nasal cleft","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Alar cleft","Alar rim cleft","Cleft nose","Isolated cleft of the ala nasi","Isolated coloboma of the nose","Tessier number 1 cleft"],"definition":"Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141242/","orphanet_url":"https://www.orpha.net/en/disease/detail/141242","names":{"fr":{"name":"Fente nasale paramédiane","synonyms":["Fente du nez","Fente faciale 1 de Tessier à l'étage nasal"],"definition":"Anomalie rare du développement embryonnaire caractérisée par un colobome unilatéral ou bilatéral du nez, dont la sévérité varie entre une petite encoche, entraînant une déviation mineure de la cloison nasale, et des fentes de taille variable des ailes du nez, qui peuvent être associées à de petits kystes ou des puits sur la ligne médiane du nez. L'anomalie peut être isolée ou associée à une fente labiale et/ou à d'autres anomalies craniofaciales (par exemple, hypertélorisme, pont nasal large, fente médiane). Le dos et la pointe du nez sont généralement bien préservés."},"de":{"name":"Nasenspalte, paramediane","synonyms":["Nasenkolobom, isoliertes","Nasenspalte","Gesichtsspalte, Tessier 1","Nasenflügelrand-Spalte","Nasenflügelspalte","Nasenflügelspalte, isolierte"]},"es":{"name":"Hendidura nasal paramediana","synonyms":["Coloboma aislado de la nariz","Fisura número 1 de Tessier","Hendidura aislada del ala nasal","Hendidura alar","Hendidura de la rima alar","Hendidura del borde alar","Hendidura número 1 de Tessier","Nariz hendida"],"definition":"Es un defecto poco frecuente del desarrollo embrionario, caracterizado por coloboma uni- o bilateral de la nariz, que varía en gravedad desde una pequeña hendidura, que produce una desviación menor del tabique nasal, hasta fisuras del ala nasal de tamaño variable que pueden estar asociadas a pequeños quistes o senos en la línea media nasal. El defecto puede ser aislado o puede ocurrir junto con labio leporino y/u otras anomalías craneofaciales (p. ej., hipertelorismo, ensanchamiento de la raíz nasal, hendidura de la línea media). El dorso y el ápice nasales suelen estar bien preservados."},"it":{"name":"Schisi nasale paramediana","definition":"La schisi nasale paramediana è un difetto raro dello sviluppo dell'embrione, caratterizzato da coloboma del naso mono- o bi-laterale, che per gravità varia tra una piccola fissurazione, che causa una lieve deviazione del setto nasale, e le schisi di dimensioni variabili delle ali del naso, eventualmente associate a piccole cisti o a seni localizzati lungo la linea mediana del naso. La malformazione può essere isolata oppure associarsi alla palatoschisi e/o ad altre anomalie craniofacciali (ad esempio ipertelorismo, allargamento della radice del naso, schisi della linea mediana). Di solito il dorso e la punta del naso sono normali."},"nl":{"name":"Paramediane nasale spleet","synonyms":["Aangezichtsspleet Tessier nummer 1","Gespleten neus","Geïsoleerd coloboom van de neus","Geïsoleerde spleet van de neusvleugel","Neusvleugelspleet","Spleet van de neusvleugelrand"],"definition":"Paramediane nasale spleet is een zeldzaam ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door een unilateraal of bilateraal coloboom van de neus, variërend in ernst van een kleine inkeping, die leidt tot geringe deviatie van het neustussenschot, tot spleten van de neusvleugels die variëren in omvang en geassocieerd kunnen zijn met kleine cysten of sinussen in de nasale middellijn. Het defect kan geïsoleerd zijn of voorkomen in associatie met gespleten lip en/of andere craniofaciale anomalieën (e.g. hypertelorisme, verbreding van de neuswortel, spleet op de middellijn). Dorsum (neusrug) en apex (neuspunt) van de neus zijn meestal goed bewaard."},"pt":{"name":"Fenda nasal"},"pl":{"name":"Przyśrodkowy rozszczep nosa","synonyms":["Rozszczep nosa","Rozszczep twarzy numer 1 wg Tessiera"],"definition":"*Przyśrodkowy rozszczep nosa jest rzadką wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się jednostronnym lub obustronnym rozszczepem nosa, który może mieć postać małego wrębu, powodującego niewielkie skrzywienie przegrody nosowej, aż do różnej wielkości rozszczepów skrzydełek nosowych, którym mogą towarzyszyć małe torbiele lub zatoki zlokalizowane w linii środkowej nosa. Wada może być izolowana lub może występować w skojarzeniu z rozszczepem wargi i/lub innymi wadami twarzoczaszki (np. hiperteloryzm, poszerzenie nasady nosa, rozszczep w linii środkowej). Grzbiet i wierzchołek nosa są zwykle oszczędzone."},"cs":{"name":"Paramediální rozštěp nosu","synonyms":["Rozštěp číslo 1 dle Tessiera"]},"uk":{"name":"Парамедіанна назальна розщілина","synonyms":["Розщілина Алар","Розщілина обода Алара","Розщілина носа","Ізольована розщілина ала-насі","Ізольована колобома носа","Розщілина Тессьє № 1"],"definition":"Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved."},"zh":{"name":"旁正中鼻裂","synonyms":["孤立性鼻翼裂"],"definition":"鼻旁正中裂是一种罕见的胚胎发育缺陷，其特征是单侧或双侧鼻缺损，严重程度可从导致鼻中隔轻微偏斜的小切口，至可能与鼻中线小囊肿或鼻窦有关的大小不同的鼻翼裂。该缺损可能是孤立性的，也可能是与唇裂和/或其他颅面异常（如眼距过宽、鼻根增宽、正中裂）相关的。鼻背和鼻尖通常发育完好。"},"tr":{"name":"Paramedyan nazal yarık","synonyms":["Alar yarık","Yarık burun","Alar ağız yarığı","Tessier 1 numaralı yarık","Burun izole kolobomu","Ala nasi'nin izole yarığı"]}},"xrefs":[{"source":"OMIM","code":"614687","qualifier":"E","icd_relation":null,"validated":true},{"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":"1147502981"},{"source":"MONDO","code":"0015414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4759655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":155867,"name":"Paramedian facial cleft","classifications":[147,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}