{"orpha":280403,"name":"Familial omphalocele syndrome with facial dysmorphism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280403/","orphanet_url":"https://www.orpha.net/en/disease/detail/280403","names":{"fr":{"name":"Syndrome omphalocèle familial avec dysmorphie faciale","definition":"Anomalie génétique rare du développement embryonnaire caractérisée par une omphalocèle associée à une dysmorphie faciale à type de visage plat, de nez court et retroussé, de philtrum long et large, d'arcade maxillaire aplatie et d'anomalies des mains."},"de":{"name":"Syndrom der Omphalozele mit Gesichtsdysmorphien, familiäre Form"},"es":{"name":"Síndrome de onfalocele familiar con dismorfia facial","definition":"Es un defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por onfalocele asociado a dismorfia facial, incluyendo cara plana, nariz corta y respingona, surco nasolabial largo y ancho y arco maxilar aplanado así como anomalías de las manos."},"it":{"name":"Sindrome da onfalocele familiare con dismorfismi facciali","definition":"La sindrome da onfalocele familiare con dismorfismi facciali è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da onfalocele, dismorfismi facciali (viso appiattito, naso corto con punta rivolta verso l'alto, filtro lungo e ampio, arco mascellare appiattito) e anomalie delle mani."},"nl":{"name":"Familiale omfalocele-syndroom met faciale dysmorfie","definition":"Familiale omfalocèlesyndroom met faciale dysmorfie is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door omfalocèle geassocieerd met faciale dysmorfie waaronder een plat gelaat, korte wipneus, lang en breed filtrum, afgevlakte bovenste tandboog en afwijkingen van de handen."},"pt":{"name":"Síndrome de onfalocelo familiar com dismorfia facial"},"pl":{"name":"Rodzinny zespół przepukliny pępowinowej z dysmorfią twarzy","definition":"*Rodzinny zespół przepukliny pępowinowej z dysmorfią twarzy jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy. Charakteryzuje się przepukliną pępowinową z towarzyszącą dysmorfią twarzy, która obejmuje płaską twarz, krótki i zadarty nos, długą i szeroką rynienkę podnosową, spłaszczony łuk szczęki, oraz wadami dłoni."},"cs":{"name":"Syndrom familiární omfalokély s faciálním dysmorfismem"},"uk":{"name":"Сімейний синдром омфалоцеле з дисморфізмом обличчя","definition":"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands."},"zh":{"name":"伴有面部畸形的家族性脐膨出综合征","definition":"家族性脐膨出综合征伴面部畸形是一种罕见的胚胎发育过程中的遗传性发育缺陷，其特征是与面部畸形有关的脐膨出，包括脸部浅平、鼻子短而上翘、人中长而宽、上颌弓浅平和手部畸形。"},"tr":{"name":"Yüz dismorfizm ile seyreden ailesel omfalosel sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q79.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","classifications":[156]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"21333766[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}