{"orpha":77300,"name":"Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77300/","orphanet_url":"https://www.orpha.net/en/disease/detail/77300","names":{"fr":{"name":"Syndrome d'anomalies auriculaires-fente labiale ou labiopalatine-anomalies oculaires","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par l'association d'anomalies auriculaires (telles que des anomalies de l'oreille externe et des fistules post-auriculaires) et d'une fente labiale avec ou sans fente palatine. Parmi les autres manifestations figurent une myopie, un nystagmus et des anomalies de la pigmentation rétinienne."},"de":{"name":"Ohranomalien-Lippenspalte mit oder ohne Gaumenspalte-Augenanomalien-Syndrom","definition":"Ein seltenes genetisch bedingtes multiples Dysmorphie-Syndrom, das durch die Assoziation von Ohranomalien (z. B. Außenohranomalien und postaurikuläre Gruben) und Lippenspalten mit oder ohne Gaumenspalte gekennzeichnet ist. Weitere Erscheinungsformen sind Myopie, Nystagmus und Pigmentstörungen der Netzhaut."},"es":{"name":"Síndrome de anomalías auriculares-fisura labial con o sin paladar hendido-anomalías oculares","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por la asociación de anomalías del pabellón auricular (como anomalías del oído externo y depresiones postauriculares) y labio leporino con o sin paladar hendido. Otras manifestaciones son miopía, nistagmo y anomalías pigmentarias de la retina."},"it":{"name":"Sindrome anomalie auricolari-labioschisi con o senza palatoschisi-anomalie oculari","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da anomalie auricolari (anomalie dell'orecchio esterno e fossette postauricolari) e labioschisi con o senza palatoschisi. I pazienti possono presentare anche miopia, nistagmo e anomalie della pigmentazione della retina."},"nl":{"name":"Auriculaire abnormaliteiten - gespleten lip met of zonder gespleten verhemelte - oculaire abnormaliteiten","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door de associatie van ooranomalieën (zoals afwijkingen van uitwendig oor en postauriculaire fistels) en gespleten lip met of zonder gespleten verhemelte. Bijkomende manifestaties zijn onder meer myopie, nystagmus, en afwijkingen van retinaal pigment."},"pt":{"name":"Síndrome de anomalias auriculares-fenda labial com/sem fenda palatina-anomalias oculares"},"pl":{"name":"Wady uszu - rozszczep wargi z lub bez rozszczepu podniebienia - wady oczu"},"cs":{"name":"Syndrom zahrnující aurikulární abnormality, rozštěp rtu s nebo bez rozštěpu patra a okulární abnormality"},"uk":{"name":"Синдром аномалії вух-розщілини губи з або без розщілиною піднебіння-аномалії очей","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities."},"zh":{"name":"耳廓畸形-唇裂伴或不伴腭裂-眼异常综合征"},"tr":{"name":"Kulak anormallikleri-yarık damakla birlikte olan veya olmayan yarık dudak-oküler anormallikler sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518478","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":71270,"name":"OBSOLETE: Auriculoocular anomalies-cleft lip syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16317305[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16317305[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011340","label":"Incomplete cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000891","label":"Cervical ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100277","label":"Periauricular skin pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}