{"orpha":2736,"name":"Lethal omphalocele-cleft palate syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Czeizel syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2736/","orphanet_url":"https://www.orpha.net/en/disease/detail/2736","names":{"fr":{"name":"Syndrome létal d'omphalocèle-fente palatine","synonyms":["Syndrome de Czeizel"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par l'association d'une omphalocèle et d'une fente palatine. Parmi les autres signes rapportés figurent : fente labiale, luette bifide, pied bot bilatéral, utérus bicorne et hydrocéphalie interne. Le syndrome est létal au cours de la petite enfance."},"de":{"name":"Omphalozele-Gaumenspalte-Syndrom, letales","synonyms":["Czeizel-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch eine Kombination von Omphalozele und Gaumenspalte gekennzeichnet ist. Weitere berichtete Merkmale sind Lippenspalten, bifide Uvula, beidseitige Klumpfüße, Uterus bicornis und Hydrocephalus internus. Die Erkrankung verläuft im Säuglingsalter letal."},"es":{"name":"Síndrome letal de onfalocele-paladar hendido","synonyms":["Síndrome de Czeizel"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas poco frecuente caracterizado por la asociación de onfalocele y fisura palatina. Otros hallazgos descritos son labio leporino, úvula bífida, pie equinovaro bilateral, útero bicorne e hidrocefalia interna. El trastorno es letal en la lactancia."},"it":{"name":"Sindrome letale onfalocele-labiopalatoschisi","synonyms":["Sindrome di Czeizel"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da onfalocele e palatoschisi. I pazienti possono presentare anche labioschisi, ugola bifida, piede equino-varo bilaterale, utero bicorne e idrocefalo interno. La malattia è letale nella prima infanzia."},"nl":{"name":"Letale omfalocele - gespleten verhemelte-syndroom","synonyms":["Syndroom van Czeizel"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door de associatie van omfalocele en gespleten verhemelte. Overige kenmerken die werden gerapporteerd, zijn onder meer gespleten lip, gespleten uvula, bilaterale talipes equinovarus (klompvoet), uterus bicornis, en hydrocephalus internus. De aandoening is letaal in de zuigelingentijd."},"pt":{"name":"Síndrome onfalocelo-fenda palatina letal","synonyms":["Síndrome Czeizel"]},"pl":{"name":"Śmiertelny zespół przepukliny pępowinowej i rozszczepu podniebienia","synonyms":["Czeizel syndrome"]},"cs":{"name":"Syndrom zahrnující letální omfalokélu a rozštěp patra","synonyms":["Czeizelův syndrom"]},"uk":{"name":"Летальний синдром омфалоцеле-розщілини піднебіння","synonyms":["Синдром Цейзеля"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy."},"zh":{"name":"致死性脐膨出-腭裂综合征","synonyms":["Czeizel 综合征"]},"tr":{"name":"Letal omfalosel-yarık damak sendromu","synonyms":["Czeizel sendromu"]}},"xrefs":[{"source":"OMIM","code":"258320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009780","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850317","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4079","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"6873946[PMID]_26867152[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6873946[PMID]_26867152[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-08","source":"17638618[PMID]_26867152[PMID]_6873946[PMID]","terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000136","label":"Bifid uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Frequent (79-30%)","criteria":null}]}}