{"orpha":357158,"name":"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Macroblepharon-ectropion-hypertelorism-macrostomia syndrome"],"definition":"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357158/","orphanet_url":"https://www.orpha.net/en/disease/detail/357158","names":{"fr":{"name":"Syndrome de dysostose mandibulo-faciale-macroblépharon-macrostomie","synonyms":["Syndrome de macroblépharon-ectropion-hypertélorisme-macrostomie"],"definition":"Anomalie rare du développement embryonnaire caractérisée par un macroblépharon, un ectropion et une dysmorphie faciale à type d'hypertélorisme sévère, de fentes palpébrales inclinées vers le bas, d'oreilles orientées vers l'arrière, de pont nasal large, de philtrum long et lisse et de macrostomie avec un vermillon de la lèvre supérieure aux bords fins. Les autres manifestations peuvent inclure des fontanelles larges, une crête métopique proéminente, d'épais sourcils, une légère synophridie, une densité accrue de cils supérieurs, des narines antéversées, une dentition anormale et un hémangiome capillaire."},"de":{"name":"Mandibulofaziale Dysostose-Makroblepharon-Makrostomie-Syndrom","synonyms":["Makroblepharon-Ektropion-Hypertelorismus-Makrostomie-Syndrom"]},"es":{"name":"Síndrome de disostosis mandibulofacial-macrobléfaron-macrostomía","synonyms":["Síndrome de macrobléfaron-ectropión-hipertelorismo-macrostomía"],"definition":"El síndrome de disostosis mandibulofacial - macrobléfaron - macrostomía, es un defecto poco frecuente del desarrollo embrionario caracterizado por macrobléfaron, ectropión y dismorfia facial que incluye hipertelorismo grave, fisuras palpebrales inclinadas hacia abajo, orejas rotadas posteriormente, puente nasal ancho, surco nasolabial largo y liso, y macrostomía con el borde bermellón del labio superior muy delgado. Otras características pueden incluir fontanelas grandes, sutura metópica prominente, cejas gruesas, leve sinofridia, hipertricosis de las pestañas superiores, narinas antevertidas, dentición anómala y hemangioma capilar."},"it":{"name":"Sindrome da disostosi mandibolo-facciale, macroblefaro e macrostomia","synonyms":["Sindrome macroblefaro-ectropion-ipertelorismo-macrostomia"],"definition":"La sindrome che associa la disostosi mandibolo-facciale, il macroblefaro e la macrostomia è un difetto raro dello sviluppo dell'embrione, caratterizzato da macroblefaro, ectropion e dismorfismi facciali (ipertelorismo grave, rime palpebrali oblique verso il basso, orecchie ruotate posteriormente, sella nasale ampia, filtro allungato e liscio, e macrostomia con assottigliamento della porzione mucosa del labbro superiore. Altri segni clinici sono le fontanelle ampie, la cresta metopica prominente, le sopracciglia folte, la sinofria lieve, l'aumento della densità delle ciglia della palpebra superiore, le narici anteverse, le anomalie della dentizione e gli emangiomi capillari."},"nl":{"name":"Mandibulofaciale dysostose - macroblefaron - macrostomie-syndroom","synonyms":["Macroblefaron - ectropion - hypertelorisme - macrostomie-syndroom"],"definition":"Mandibulofaciale dysostose - macroblefaron - macrostomie-syndroom is een zeldzaam ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door macroblefaron, ectropion en faciale dysmorfie, met onder meer ernstig hypertelorisme, schuin naar beneden hellende ooglidspleten, naar achteren gedraaide oren, brede neusbrug, lang en vlak filtrum, en macrostomie met dunne vermiljoengrens van de bovenlip. Andere mogelijke kenmerken zijn onder meer grote fontanellen, prominente metopische naad, dikke wenkbrauwen, milde synophrys, verhoogde densiteit van de bovenste wimpers, anteversie van de neusgaten, abnormaal gebit en capillair hemangioom."},"pt":{"name":"Síndrome de disostose mandibulofacial-macrobléfaro-macrostomia","synonyms":["Síndrome de macroblefaro-ectropion-hipertelorismo-macristomia"]},"pl":{"name":"Dyzostoza żuchwowo-twarzowa - macroblepharon - makrostomia","synonyms":["Zespół macroblepharon - ektropion - hiperteloryzm - makrostomia"],"definition":"*Dyzostoza żuchwowo-twarzowa - macroblepharon - makrostomia jest rzadkim defektem rozwojowym powstałym w wyniku zaburzeń embriogenezy, który charakteryzuje się olbrzymią powieką, ektropionem (odwinięciem powieki) i dysmorfią twarzy, na którą składa się znacznego stopnia hiperteloryzm, skośnie w dół ustawione szpary powiekowe, zrotowane ku tyłowi uszy, szeroki grzbiet nosa, długa i wygładzona rynienka podnosowa, duże usta oraz cienka górna warga. Mogą ponadto występować takie objawy jak: olbrzymie ciemię, grzebień kości czołowej (zgrubienie na przebiegu szwu czołowego), grube brwi, łagodny zrośnięcie przyśrodkowych brwi, zwiększona gęstość górnej linii rzęs, odwrócone nozdrza, nieprawidłowe uzębienie i naczyniak włośniczkowy."},"cs":{"name":"Syndrom zahrnující mandibulofaciální dysostózu, makroblefaron a makrostomii","synonyms":["Syndrom zahrnující makroblefaron, ektropion, hypertelorismus a makrostomii"]},"uk":{"name":"Синдром мандибулофаціального дизостозу-макроблефарону-макростомії","synonyms":["Синдром макроблефарон-ектропіон-гіпертелоризм-макростомія"],"definition":"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma."},"zh":{"name":"下颌面骨发育不全-巨睑-巨口畸形综合征","synonyms":["巨睑-睑外翻-眼距过宽-巨口综合征"],"definition":"下颌面部发育不良-巨睑-巨口综合征是一种罕见的胚胎发育缺陷，其特征包括大眼睑、睑外翻和面部畸形（包括严重的眼距过宽、睑裂下斜、耳后旋、宽鼻梁、长且平的人中、巨口伴上红唇缘薄）。本病的其他特征可能包括大颧骨、额缝外生骨嵴突出、粗眉、轻度连眉、上睫毛密度增加、鼻孔前倾、牙列异常和毛细血管瘤。"},"tr":{"name":"Mandibulofasiyal dizostoz-makroblefaron-makrostomi sendromu","synonyms":["Makroblefaron-ektropiyon-hipertelorizm-makrostomi sendromu"]}},"xrefs":[{"source":"OMIM","code":"602562","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011255","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750958","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":98570,"name":"Congenital ectropion","classifications":[147,156,189]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":155899,"name":"Mandibulofacial dysostosis","classifications":[147,156,199,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9018413[PMID]_23448909[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9018413[PMID]_23448909[PMID]"}],"phenotypes":null}