{"orpha":2007,"name":"Alar cartilages hypoplasia-coloboma-telecanthus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2007/","orphanet_url":"https://www.orpha.net/en/disease/detail/2007","names":{"fr":{"name":"Syndrome de fente narinaire-colobome-télécanthus","definition":"Le syndrome de fente narinaire-colobome-télécanthus est un trouble dysmorphique très rare, caractérisé par une hypoplasie et un colobome des cartilages alaires, associés à un télécanthus. Il a été décrit chez deux soeurs. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1976."},"de":{"name":"Flügelknorpel-Hypoplasie-Kolobom-Telekanthus-Syndrom"},"es":{"name":"Síndrome de hipoplasia de los cartílagos alares-coloboma-telecanto","definition":"Es un trastorno dismórfico muy poco frecuente caracterizado por hipoplasia y coloboma del cartílago alar y el telecanto descrito en 2 hermanas. No se han registrado nuevos casos con características similares desde 1976."},"it":{"name":"Sindrome ipoplasia delle cartilagini alari-coloboma-telecanto"},"nl":{"name":"Hypoplasie van kraakbeen van neusvleugel - coloboom - telecanthus-syndroom","definition":"Een zeer zeldzame dysmorfie, die gekarakteriseerd wordt door hypoplasie en coloboom van kraakbeen van neusvleugel en telecanthus, en die werd beschreven bij 2 zussen. Sinds 1976 werden geen nieuwe gevallen met gelijkaardige kenmerken meer gerapporteerd."},"pt":{"name":"Síndrome de hipoplasia das cartilagens alares-coloboma-telecanto"},"pl":{"name":"Zespół hipoplazji chrząstek skrzydłowych nosa, rozszczepu i telekantusa"},"cs":{"name":"Syndrom zahrnující hypoplázii alárních chrupavek, kolobom a telekantus"},"uk":{"name":"Синдром гіпоплазії хрящів надгортанника-колобоми-телекантуса","definition":"A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976."},"zh":{"name":"鼻翼软骨发育不全-缺损-眼距过宽综合征"},"tr":{"name":"Alar kıkırdak hipoplazisi-kolobom-telekantus sendromu"}},"xrefs":[{"source":"OMIM","code":"203000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008744","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302677","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1273139[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1273139[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003191","label":"Cleft ala nasi","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null}]}}