{"orpha":1134,"name":"Isolated arrhinia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated nose agenesis"],"definition":"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1134/","orphanet_url":"https://www.orpha.net/en/disease/detail/1134","names":{"fr":{"name":"Arhinie isolée","synonyms":["Agénésie isolée du nez"],"definition":"Une malformation congénitale majeure extrêmement rare, consistant en l'absence de nez, allant d'une hyporhinie (absence des structures nasales externes) à une arhinie totale (absence des structures externes du nez, des voies nasales, des bulbes olfactifs ou de nerf olfactif), souvent responsable d'une détresse respiratoire et nécessitant une réparation chirurgicale. L'arhinie peut être bilatérale ou unilatérale (hémiarhinie). Les anomalies associées incluent des signes oculaires (hypertélorisme, microphtalmie, colobome palpébral), des fentes faciales, des anomalies latérales et une microtie."},"de":{"name":"Arrhinie, isolierte","synonyms":["Nasenagenesie, isolierte"]},"es":{"name":"Arrinia aislada","synonyms":["Agenesia nasal aislada"],"definition":"Es una importante malformación congénita muy poco frecuente consistente en la ausencia de nariz, que varía desde hiporrinia (ausencia de estructuras nasales externas) hasta arrinia completa (ausencia de nariz externa, vías respiratorias nasales, bulbos olfativos o nervios olfativos), que a menudo causa dificultad respiratoria y requiere de corrección quirúrgica. La arrinia puede ser bi- o unilateral (hemiarrinia). Las anomalías asociadas incluyen hallazgos oculares (hipertelorismo, microftalmia, coloboma del párpado), hendiduras faciales, defectos de la línea media y microtia."},"it":{"name":"Arinia isolata","synonyms":["Agenesia del naso isolata"],"definition":"L'arinia isolata è una malformazione congenita grave e molto rara, che consiste nell'agenesia del naso, che va dall'iporinia (assenza delle strutture esterne del naso) fino all'arinia completa (assenza delle strutture esterne, delle vie aeree del naso, dei bulbi olfattivi o dei nervi olfattivi). Spesso causa distress respiratorio e necessita di correzione chirurgica. L'arinia può essere bilaterale o monolaterale (emiarinia). Si associa ad altre anomalie oculari (ipertelorismo, microftalmia, coloboma della palpebra), schisi facciali, difetti della linea mediana e microtia."},"nl":{"name":"Geïsoleerde arrhinie","synonyms":["Geïsoleerde agenesie van de neus"],"definition":"Een uiterst zeldzame, grote, congenitale malformatie die afwezigheid van de neus omvat, gaande van hyporrhinie (afwezigheid van uitwendige structuren van de neus) tot volledige arrhinie (afwezigheid van de uitwendige neus, nasale luchtwegen, reukkolven, of reukzenuw), en waarbij vaak ademnood ontstaat en chirurgische correctie vereist is. Arrhinie kan bilateraal of unilateraal (hemiarrhinie) zijn. Geassocieerde anomalieën zijn onder meer oculaire kenmerken (hypertelorisme, microftalmie, coloboom van ooglid), gezichtsspleten, defecten aan de middellijn en microtie."},"pt":{"name":"Arrinia isolada","synonyms":["Agenesia nasal isolada"]},"pl":{"name":"Brak nosa","synonyms":["Agenezja nosa"]},"cs":{"name":"Arrhinie","synonyms":["Ageneze nosu"]},"uk":{"name":"Ізольована аринія","synonyms":["Ізольована агенезія носа"],"definition":"An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia."},"zh":{"name":"孤立型无鼻畸形","synonyms":["孤立性鼻发育不全"]},"tr":{"name":"İzole arini","synonyms":["İzole burun agenezisi"]}},"xrefs":[{"source":"ICD-10","code":"Q30.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"409489963"},{"source":"MONDO","code":"0015237","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537438","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265740","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"364","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","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-18","source":"27386828[PMID]","terms":[{"hpo":"HP:0005273","label":"Absent nasal septal cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009935","label":"Aplasia/Hypoplasia of the nasal septum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004646","label":"Hypoplasia of the nasal bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004122","label":"Midline defect of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009927","label":"Aplasia of the nose","frequency":"Occasional (29-5%)","criteria":null}]}}