{"orpha":562569,"name":"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-562569/","orphanet_url":"https://www.orpha.net/en/disease/detail/562569","names":{"fr":{"name":"Syndrome d'anomalie cardiaque congénitale-dysmorphie faciale-retard du développement associé à TMEM94","definition":"Maladie génétique rare du développement neurologique, caractérisée par un retard global du développement, des malformations cardiaques congénitales, une hypertrichose généralisée et une dysmorphie faciale, se traduisant le plus souvent par un visage triangulaire, des sourcils épais et arqués, des yeux très espacés, des oreilles implantées bas et orientées en arrière, un pont nasal déprimé, une racine et une pointe nasales larges et un menton pointu."},"de":{"name":"TMEM94-assoziierter kongenitaler Herzdefekt-Gesichtsdysmorphie-Entwicklungsverzögerung-Syndrom","definition":"Eine genetisch bedingte neurologische Entwicklungsstörung, die durch globale Entwicklungsverzögerung, angeborene Herzfehler, generalisierte Hypertrichose und dysmorphe Gesichtszüge gekennzeichnet ist. Typische Gesichtsmerkmale sind ein dreieckiges Gesicht, dicke, gewölbte Augenbrauen, weit auseinander stehende Augen, nach hinten gedrehte, tief angesetzte Ohren, ein vertiefter Nasenrücken mit breiter Nasenwurzel und -spitze sowie ein spitzes Kinn."},"es":{"name":"Síndrome de defectos cardiacos congénitos-dismorfia facial-retraso del desarrollo asociado a TMEM94","definition":"Es un trastorno del neurodesarrollo, genético y poco frecuente, que se caracteriza por retraso global del desarrollo, defectos cardíacos congénitos, hipertricosis generalizada y rasgos faciales dismórficos, más comúnmente consistentes en cara triangular, cejas gruesas y arqueadas, ojos muy separados, orejas de implantación baja con rotación posterior, puente nasal deprimido, raíz y punta nasal amplias, y mentón puntiagudo."},"it":{"name":"Sindrome cardiopatia congenita-dismorfismi facciali-ritardo dello sviluppo correlata a TMEM94","definition":"Si tratta di una malattia genetica rara dello sviluppo neurologico, caratterizzata da ritardo dello sviluppo globale, cardiopatie congenite, ipertricosi generalizzata e dismorfismi facciali (viso triangolare, sopracciglia folte e arcuate, occhi iperdistanziati, orecchie ruotate posteriormente e a basso impianto, sella del naso infossata, radice e punta del naso larghe e mento appuntito)."},"nl":{"name":"TMEM94-geassocieerd congenitaal hartdefect - faciale dysmorfie - ontwikkelingsachterstand-syndroom","definition":"Een zeldzame, genetische neurologische ontwikkelingsstoornis, gekarakteriseerd door algehele ontwikkelingsachterstand, congenitale hartdefecten, gegeneraliseerde hypertrichose, en dysmorfe gelaatskenmerken, doorgaans driehoekig gelaat, dikke en gebogen wenkbrauwen, ver uit elkaar staande ogen, naar achteren gedraaide en laagstaande oren, ingezakte neusbrug, brede neuswortel en -punt, en puntige kin."},"pt":{"name":"Síndrome de anomalia cardíaca congénita-dismorfia facial-perturbação do desenvolvimento TMEM94-associada"},"pl":{"name":"Zespół wrodzonej wady serca, dysmorfii twarzy i opóźnienia rozwoju związany z TMEM94"},"cs":{"name":"Syndrom zahrnující vrozenou srdeční vadu, obličejový dysmorfismus a opožděný vývoj spojený s TMEM94"},"uk":{"name":"TMEM94-асоційований синдром вродженої вади серця-дизморфізму обличчя-затримки розвитку","definition":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin."},"zh":{"name":"TMEM94基因相关的先天性心脏缺陷-面部畸形-发育迟缓综合征","definition":"一种罕见的遗传性神经发育障碍，以全面发育迟缓、先天性心脏缺陷、全身性多毛症和面容畸形为特征，最常见的是三角形脸、粗拱眉、宽大眼距、后旋低位耳、鼻梁凹陷、鼻根和鼻尖宽大、尖下巴。"},"tr":{"name":"TMEM94-ilişkili doğumsal kalp defekti-fasiyal dismorfizm-gelişme geriliği sendromu"}},"xrefs":[{"source":"OMIM","code":"618316","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193024","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":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"TMEM94","name":"transmembrane protein 94","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30526828[PMID]","hgnc":"28983","ensembl":"ENSG00000177728","omim":"618163","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"30526868[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30526868[PMID]"}],"phenotypes":null}