{"orpha":289553,"name":"Dysmorphism-conductive hearing loss-heart defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289553/","orphanet_url":"https://www.orpha.net/en/disease/detail/289553","names":{"fr":{"name":"Syndrome de dysmorphie-surdité de transmission-malformation cardiaque","definition":"Le syndrome de dysmorphie-surdité de transmission-malformation cardiaque est un syndrome rare d'anomalies congénitales multiples. Il se caractérise par une dysmorphie faciale (implantation basse des cheveux, ptosis bilatéral, yeux proéminents, étage médian du visage plat, narines larges et plates, vermillon en forme d'arc de Cupidon, petites oreilles de basse implantation et orientées vers l'arrière), une fente palatine, une surdité de transmission, des anomalies cardiaques (communication interauriculaire ou interventriculaire), et un léger retard de développement/déficit intellectuel."},"de":{"name":"Dysmorphien-Schallleitungsschwerhörigkeit-Herzfehler-Syndrom","definition":"Ein seltenes, multiples kongenitale Anomalien-Syndrom, das durch ein ausgeprägtes Gesichtserscheinungsbild (niedrige Stirnhaargrenze, beidseitige Ptosis, hervortretende Augen, flaches Mittelgesicht, breite, flache Nasenlöcher, zinnoberroter Kupidobogen der Oberlippe und kleine, tief angesetzte, nach hinten gedrehte Ohren), zusätzlich zu Gaumenspalte, Schallleitungsschwerhörigkeit, Herzfehlern (Vorhof- oder Ventrikelseptumdefekt) und leichter Entwicklungsverzögerung/Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome de dismorfia-hipoacusia conductiva-defecto cardíaco","definition":"El síndrome de dismorfia facial-hipoacusia conductiva-defecto cardíaco, es un síndrome poco frecuente de anomalías congénitas múltiples, caracterizado por una apariencia facial característica (línea de implantación frontal del cabello baja, ptosis palpebral bilateral, ojos prominentes, tercio medio facial aplanado, fosas nasales anchas y planas, arco de cupido en labio superior muy pronunciado, orejas pequeñas de implantación baja y rotadas posteriormente) junto con paladar hendido, hipoacusia de conducción, defectos cardíacos (defecto del tabique auricular o ventricular) y leve retraso del desarrollo/discapacidad intelectual."},"it":{"name":"Dismorfismi - sordità di conduzione - cardiopatia","definition":"La sindrome dismorfismi-sordità di conduzione-cardiopatia è una malattia da anomalie congenite multiple rara, caratterizzata da facies caratteristica (attaccatura dei capelli bassa sulla fronte, ptosi bilaterale, occhi prominenti, appiattimento della porzione medio-facciale, narici ampie e piatte, porzione mucosa del labbro superiore con arco di Cupido, orecchie piccole, a basso impianto e ruotate posteriormente), palatoschisi, sordità di conduzione, cardiopatie (difetto del setto atriale o ventricolare) e ritardo dello sviluppo/disabilità intellettiva lieve."},"nl":{"name":"Dysmorfie - conductief gehoorverlies - hartdefect-syndroom","definition":"Dysmorfie - conductief gehoorverlies - hartdefect-syndroom is een zeldzaam syndroom met meervoudige congenitale anomalieën en wordt gekarakteriseerd door kenmerkende gelaatstrekken (lage voorste haarlijn, bilaterale ptose, prominente ogen, plat middengelaat, brede en platte neusgaten, uitgesproken cupidobogen van de bovenlip, en kleine, laagstaande, naar achter gedraaide oren), met daarnaast ook een gespleten verhemelte, conductief gehoorverlies, hartdefecten (atriaal of ventriculair septumdefect) en een milde ontwikkelingsachterstand/intellectuele beperking."},"pt":{"name":"Síndrome de dismorfia-perda auditiva de transmissão-anomalia cardíaca"},"pl":{"name":"Dysmorfizm - przewodzeniowa utrata słuchu - wada serca"},"cs":{"name":"Syndrom zahrnující dysmorfismus, převodní ztrátu sluchu a srdeční vady"},"uk":{"name":"Синдром дисморфізму-кондуктивної приглухуватості-серцевих вад","definition":"Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability."},"zh":{"name":"畸形-传导性听力损失-心脏缺陷综合征","definition":"畸形-传导性听力损失-心脏缺陷综合征是一种罕见的多发性先天性异常综合征，其特征是面部特征明显（发际线低，双侧上睑下垂，突眼，面中部扁平而宽， 鼻孔处，上唇丘比特弓朱红色，小的低位后旋耳），此外还表现为腭裂、传导性听力损失、心脏缺陷（心房或室间隔缺损）和轻度发育迟缓/智力障碍。"},"tr":{"name":"Dismorfizm-iletim tipi işitme kaybı-kalp defekti sendromu"}},"xrefs":[{"source":"OMIM","code":"615102","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554774","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}