{"orpha":141099,"name":"Proboscis lateralis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital tubular nose"],"definition":"Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141099/","orphanet_url":"https://www.orpha.net/en/disease/detail/141099","names":{"fr":{"name":"Proboscis latéral","synonyms":["Nez tubulaire congénital"],"definition":"Le proboscis latéral (PL) est une anomalie faciale congénitale rare caractérisée par l'absence de développement d'un côté du nez externe, qui est remplacé par une structure tubulaire composée de peau et de tissu mou, généralement attaché au canthus interne de l'oeil, et de ce fait, est souvent associé au mauvais développement de la cavité nasale ou des sinus paranasaux ipsilatéraux. Le PL peut aussi s'associer à des anomalies orbitaires, une fente labiale avec ou sans fente palatine, un encéphalocèle frontal et une holoprosencéphalie."},"de":{"name":"Proboscis lateralis"},"es":{"name":"Proboscis lateralis","synonyms":["Nariz tubular congénita"],"definition":"Es una anomalía facial congénita poco frecuente caracterizada por el fallo en el desarrollo externo de un lado de la nariz, que es reemplazado por una estructura tubular compuesta por piel y tejido blando que generalmente se adhiere al canto interno del ojo y, por lo tanto, se asocia a menudo con mal desarrollo de la cavidad nasal o de los senos paranasales del lado afectado. Esta anomalía se asocia también a otras anomalías craneofaciales, tales como anomalías de la órbita, hendidura de labio / paladar, encefalocele frontal y holoprosencefalia."},"it":{"name":"Proboscide laterale","definition":"La proboscide laterale (PL) è un'anomalia rara congenita del volto, caratterizzata dal mancato sviluppo, da un lato, del naso nella sua porzione esteriore, che viene sostituito da una struttura tubolare composta da cute e tessuto molle, di solito attaccata al canto interno dell'occhio e, di conseguenza, spesso associata ad anomalie dello sviluppo della cavità nasale o dei seni paranasali del lato interessato. La PL si associa anche ad altre anomalie craniofacciali, come quelle orbitali, la labio/palatoschisi, l'encefalocele frontale e l'oloprosencefalia (si vedano questi termini)."},"nl":{"name":"Proboscis lateralis","synonyms":["Congenitale buisvormige neus","Congenitale tubulaire neus"],"definition":"Proboscis lateralis (PL) is een zeldzame, congenitale anomalie van het gelaat die gekarakteriseerd wordt door een gefaalde ontwikkeling van de uitwendige neus aan één zijde, waar die wordt vervangen door een tubulaire structuur bestaande uit huid en zacht weefsel en doorgaans vastgehecht aan de binnenste canthus van het oog. Bijgevolg is het vaak geassocieerd met onderontwikkeling van de neusholte of neusbijholten aan de getroffen zijde. PL is ook geassocieerd met andere craniofaciale afwijkingen zoals anomalieën van de oogkas, gespleten lip/verhemelte, frontale encefalocèle en holoprosencefalie (zie deze termen)."},"pt":{"name":"Proboscis lateral"},"pl":{"name":"Proboscis lateralis","synonyms":["Wrodzony nos rurkowaty"]},"cs":{"name":"Proboscis lateralis","synonyms":["Vrozený tubulární nos"]},"uk":{"name":"Бічний хоботок (Proboscis lateralis)","synonyms":["Вроджений трубчастий ніс"],"definition":"Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms)."},"zh":{"name":"鼻侧缘畸形","synonyms":["先天性管状鼻"],"definition":"鼻侧缘畸形(PL)是一种罕见的先天性面部畸形，其特征是一侧外鼻发育不良，并由皮肤和软组织组成的管状结构替代，通常附着在内眼角，因此患侧常伴鼻腔或鼻旁窦发育不良。PL也与其他颅面畸形有关，如眼眶畸形、唇裂/腭裂、额部脑疝和前脑无裂畸形（见该类词条）。"},"tr":{"name":"Lateral probiskus","synonyms":["Doğumsal tübüler burun"]}},"xrefs":[{"source":"ICD-10","code":"Q30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"646148612"},{"source":"MONDO","code":"0015390","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274985","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-23","source":"34395913[PMID]_31420283[PMID]","terms":[{"hpo":"HP:0000245","label":"Abnormality of the paranasal sinuses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012806","label":"Proboscis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430023","label":"Abnormality of the maxillary sinus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032039","label":"Abnormality of the ocular adnexa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009932","label":"Single naris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040296","label":"Abnormal location of the eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000030","label":"Abnormal morphology of bony orbit of skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430005","label":"Abnormality of ethmoid bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009117","label":"Aplasia/Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012738","label":"Agenesis of canine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005580","label":"Duplication of renal pelvis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001144","label":"Orbital cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007946","label":"Unilateral narrow palpebral fissure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012300","label":"Ureteral agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}