{"orpha":527468,"name":"Diaphragmatic hernia-short bowel-asplenia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-527468/","orphanet_url":"https://www.orpha.net/en/disease/detail/527468","names":{"fr":{"name":"Syndrome de hernie diaphragmatique-grêle court-asplénie","synonyms":["Syndrome de hernie diaphragmatique-intestin court-asplénie"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une hernie diaphragmatique congénitale, un intestin court et une asplénie. La dysmorphie faciale comprend un grand front, un hypertélorisme, des narines antéversées et une micrognathie. Une atrésie du duodénum a également été rapportée."},"de":{"name":"Zwerchfellhernie-Kurzdarm-Asplenie-Syndrom","definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch eine angeborene Zwerchfellhernie, einen Kurzdarm und eine Asplenie gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören eine lange Stirn, Hypertelorismus, nach oben gerichtete Nasenlöcher und ein kleiner Unterkiefer. Es wurde auch über eine Atresie des Zwölffingerdarms berichtet."},"es":{"name":"Síndrome de hernia diafragmática-intestino corto-asplenia","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de origen genético, y poco frecuente caracterizado por hernia diafragmática congénita, intestino corto y asplenia. Los rasgos faciales dismórficos incluyen frente amplia, hipertelorismo, narinas antevertidas y mandíbula pequeña. También se ha descrito atresia duodenal."},"it":{"name":"Sindrome ernia diaframmatica - intestino corto - asplenia","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ernia diaframmatica, intestino corto e asplenia. I dismorfismi facciali comprendono la fronte lunga, l'ipertelorismo, le narici rivolte verso l'alto e la mandibola ipoplastica. Sono stati descritti pazienti con atresia del duodeno."},"nl":{"name":"Hernia diaphragmatica - korte darm - asplenie-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door congenitale hernia diafragmatica, korte darm, en asplenie. Dysmorfe gelaatskenmerken zijn onder meer lang voorhoofd, hypertelorisme, anteversie van neusgaten, en kleine onderkaak. Atresie van duodenum werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de hérnia diafragmática-intestino curto-asplenia"},"pl":{"name":"Zespół przepukliny przeponowej-krótkiego jelita-braku śledziony"},"cs":{"name":"Syndrom zahrnující brániční kýlu, krátké střevo a asplenii"},"uk":{"name":"Синдром діафрагмальної грижи-аспленії короткої кишки","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported."},"zh":{"name":"横膈疝-短肠-无脾症候群"},"tr":{"name":"Diyafram fıtığı-kısa bağırsak-aspleni sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681454","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":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]},{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[{"symbol":"HLX","name":"H2.0 like homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28898547[PMID]","hgnc":"4978","ensembl":"ENSG00000136630","omim":"142995","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"28898547[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28898547[PMID]"}],"phenotypes":null}