{"orpha":1110,"name":"Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1110/","orphanet_url":"https://www.orpha.net/en/disease/detail/1110","names":{"fr":{"name":"Syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle","definition":"Le syndrome d'arc aortique anormal-dysmorphie-déficience intellectuelle est une anomalie du développement caractérisée à la naissance par une arche aortique droite, une dysmorphie craniofaciale (microcéphalie, asymétrie, os faciaux, front large, hypertélorisme, déviation du septum nasal, large cavité nasale, larges oreilles orientées vers l'arrière, microstomie avec coins de la bouche orientés vers le bas), et un déficit intellectuel. Ces caractéristiques ont été observées chez quatre membres de la même famille, impliquant deux générations successives, ce qui suggère un mode de transmission autosomique dominant. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1968."},"de":{"name":"Aortenbogenanomalie-Gesichtsdysmorphie-Intelligenzminderung-Syndrom"},"es":{"name":"Síndrome de anomalías del arco aórtico-dismorfia facial-discapacidad intelectual","definition":"Es una alteración del desarrollo caracterizada en el momento del nacimiento por la presencia de un arco aórtico derecho, dismorfia craneofacial (microcefalia, huesos faciales asimétricos, frente ancha, hipertelorismo limítrofe, desviación del tabique nasal, gran cavidad nasal, orejas grandes y rotadas posteriormente, y microstomía con las comisuras de la boca inclinadas hacia abajo), y deficiencia intelectual. Estos rasgos se observaron en 4 miembros de una familia durante 2 generaciones sucesivas, sugiriendo una transmisión autosómica dominante. Desde 1968 no se han descrito más casos en la literatura."},"it":{"name":"Sindrome anomalia dell'arco aortico-dismorfismi facciali-disabilità intellettiva","definition":"Le anomalie dell'arco aortico con dismorfismi e disabilità mentale è un difetto dello sviluppo caratterizzato, alla nascita, dalla destroposizione dell'arco aortico, dimorfismi craniofacciali (microcefalia, asimmetria delle ossa facciali, fronte ampia, ipertelorismo borderline, deviazione del setto nasale, ampia cavità nasale, orecchie grandi, ruotate posteriormente e microstomia con angoli della bocca rivolti verso il basso) e disabilità mentale. Questa associazione di segni è stata osservata in 4 soggetti della stessa famiglia su due generazioni successive; è stata perciò ipotizzata una trasmissione autosomica dominante. L'ultima descrizione risale al 1968."},"nl":{"name":"Aortabooganomalie - faciale dysmorfie - intellectuele achterstand-syndroom","definition":"Een abnormale ontwikkeling die bij de geboorte gekarakteriseerd wordt door de aanwezigheid van rechtszijdige aortaboog, craniofaciale dysmorfie (microcefalie, asymmetrische aangezichtsbeenderen, breed voorhoofd, subklinisch hypertelorisme, deviatie van neustussenschot, grote neusholte, grote en naar achteren gedraaide oren, en microstomie met naar beneden gekeerde mondhoeken), en intellectuele achterstand. Deze kenmerken werden waargenomen bij 4 leden van één familie uit 2 opeenvolgende generaties, wat wijst op een autosomaal dominante manier van overerving. Sinds 1968 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Sindrome de anomalia do arco aórtico-dismorfia facial-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół wad łuku aorty, dysmorfii twarzy i niepełnosprawności intelektualnej"},"cs":{"name":"Syndrom zahrnující anomálii aortálního oblouku, zvláštní facies a mentální retardaci"},"uk":{"name":"Синдром аномалії дуги аорти - дизморфізму обличчя - інтелектуальної недостатності","definition":"A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968."},"zh":{"name":"主动脉弓异常-面部畸形-智力障碍综合征"},"tr":{"name":"Aortik ark anomalisi-yüz dismorfizmi-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"107500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007143","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537785","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706520","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"739","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"5696314[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5696314[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002623","label":"Overriding aorta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null}]}}