{"orpha":444069,"name":"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444069/","orphanet_url":"https://www.orpha.net/en/disease/detail/444069","names":{"fr":{"name":"Syndrome de malformation cérébrale-atrésie duodénale-hypoplasie rénale bilatérale foetal létal","definition":"Anomalies congénitales multiples/syndrome dysmorphique létal rare d'origine génétique caractérisé par une létalité à mi-parcours de la grossesse et par des signes de ciliopathie. Parmi les manifestations cliniques figurent&#8239;: hydrocéphalie, hypoplasie du vermis cérébelleux, agénésie du corps calleux, atrésie duodénale, malrotation gastro-intestinale, hypoplasie rénale bilatérale, ainsi que des dysmorphies craniofaciales (telles que&#8239;: microcéphalie, hypertélorisme, oreilles d'implantation basse, nez proéminent, columelle courte, fente palatine, micrognathie et bouche large)."},"de":{"name":"Letale fetale Hirnfehlbildung-duodenale Atresie-bilaterale Nierenhypoplasie-Syndrom","definition":"Ein genetisch bedingtes Dysmorphie-Syndrom, das durch Letalität in der mittleren Gestationsphase und Merkmale einer Ziliopathie gekennzeichnet ist. Zu den klinischen Manifestationen gehören Hydrozephalus, Kleinhirnhypoplasie, Corpus-Callosum-Agenesie, Duodenalatresie, gastrointestinale Malrotation, bilaterale Nierenhypoplasie und dysmorphe kraniofaziale Merkmale (wie Mikrozephalie, Hypertelorismus, tief angesetzte Ohren, abstehende Nase, kurze Columella, Gaumenspalte, Mikrognathie und breiter Mund)."},"es":{"name":"Síndrome de malformación cerebral fetal letal-atresia duodenal-hipoplasia renal bilateral","definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por ser letal a mitad del periodo de gestación y por presentar características asociadas a las ciliopatías. Las manifestaciones clínicas incluyen hidrocefalia, hipoplasia del vermis cerebeloso, agenesia del cuerpo calloso, atresia duodenal, malrotación gastrointestinal, hipoplasia renal bilateral y rasgos craneofaciales dismórficos (como microcefalia, hipertelorismo, orejas de implantación baja, nariz prominente, columela corta, paladar hendido, micrognatia, y boca ancha)."},"it":{"name":"Sindrome fetale letale malformazione cerebrale-atresia duodenale-ipoplasia renale bilaterale","definition":"Si tratta di una malattia genetica rara e letale da anomalie/dismorfismi congeniti multipli, caratterizzata da morte del feto verso la metà della gestazione e dai segni clinici caratteristici della ciliopatia, che comprendono l'idrocefalo, l'ipoplasia del verme cerebellare, l'agenesia del corpo calloso, l'atresia duodenale, la malrotazione gastrointestinale, l'ipoplasia renale bilaterale e i dismorfismi craniofacciali (microcefalia, ipertelorismo, orecchie a basso impianto, naso prominente, columella corta, palatoschisi, micrognazia e bocca larga)."},"nl":{"name":"Letale foetale hersenmalformatie - duodenale atresie - bilaterale renale hypoplasie-syndroom","definition":"Een zeldzaam, genetisch letaal syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door letaliteit halverwege de zwangerschap en kenmerken van een ciliopathie. Klinische manifestaties zijn onder meer hydrocefalie, hypoplasie van cerebellaire vermis, agenesie van corpus callosum, atresie van duodenum, gastro-intestinale malrotatie, bilaterale nierhypoplasie, en dysmorfe craniofaciale kenmerken (zoals microcefalie, hypertelorisme, laagstaande oren, prominente neus, korte columella, gespleten gehemelte, micrognathie, en brede mond)."},"pt":{"name":"Síndrome de malformação fetal cerebral fatal – atrésia duodenal – hipoplasia renal bilateral"},"pl":{"name":"Śmiertelny zespół malformacji mózgu, atrezji dwunastnicy i obustronnej hipoplazji nerek"},"cs":{"name":"Syndrom zahrnující letální fetální malformaci mozku, duodenální atrézii a bilaterální renální hypoplázii"},"uk":{"name":"Летальний синдром вади розвитку головного мозку плода-атрезії дванадцятипалої кишки - двосторонньої гіпоплазії нирок","definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth)."},"zh":{"name":"致死性胎儿脑发育不良-十二指肠闭锁-双侧肾发育不全综合征/Stromme综合症"},"tr":{"name":"Ölümcül fetal beyin malformasyonu-duodenal atrezi-bilateral renal hipoplazi sendromu"}},"xrefs":[{"source":"OMIM","code":"243605","qualifier":"ND","icd_relation":null,"validated":false},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681197","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"CENPF","name":"centromere protein F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25564561[PMID]","hgnc":"1857","ensembl":"ENSG00000117724","omim":"600236","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25564561[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25564561[PMID]"}],"phenotypes":null}