{"orpha":480528,"name":"Lethal hydranencephaly-diaphragmatic hernia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480528/","orphanet_url":"https://www.orpha.net/en/disease/detail/480528","names":{"fr":{"name":"Syndrome d'hydranencéphalie-hernie diaphragmatique létale","definition":"Un syndrome génétique rare et létal d'anomalies congénitales multiples. Il se caractérise par une hydranencephalie et une hernie diaphragmatique, une macrocéphalie, une fontanelle antérieure très ouverte, un abdomen scaphoïde et une hypotonie. Des troubles cardiaques congénitaux, un polyhydramnios et une hypertension pulmonaire ont aussi été associés."},"de":{"name":"Letale Hydranenzephalie-Zwerchfellhernie-Syndrom"},"es":{"name":"Síndrome letal de hidranencefalia-hernia diafragmática","definition":"Es un síndrome genético con múltiples anomalías congénitas, letal y poco frecuente, caracterizado por hidranencefalia y hernia diafragmática, así como macrocefalia, fontanela anterior muy abierta, abdomen escafoide e hipotonía. También se han asociado defectos cardíacos congénitos, polihidramnios e hipertensión pulmonar."},"it":{"name":"Sindrome letale da idranencefalia ed ernia diaframmatica","definition":"La sindrome letale da idranencefalia ed ernia diaframmatica è una malattia genetica rara e letale da anomalie congenite multiple, caratterizzata da idranencefalia, ernia diaframmatica, macrocefalia, ampia fontanella anteriore, addome scafoide e ipotonia. Possono associarsi cardiopatie congenite, polidramnios ed ipertensione polmonare."},"nl":{"name":"Letaal hydranencefalie - hernia diaphragmatica-syndroom","definition":"Letaal hydranencefalie - diafragmatische hernia-syndroom is een zeldzaam, genetisch, letaal syndroom met multipele congenitale anomalieën, en wordt gekarakteriseerd door hydranencefalie en middenrifbreuk, alsook macrocefalie, een wijd open voorste fontanel, scaphoïd abdomen en hypotonie. Verder werden ook congenitale hartdefecten, polyhydramnion en pulmonale hypertensie geassocieerd."},"pt":{"name":"Síndrome letal de hidranencefalia-hérnia diafragmática"},"pl":{"name":"Śmiertelny zespół wodogłowia i przepukliny przepony","definition":"*Śmiertelny zespół wodogłowia i przepukliny przepony jest rzadkim, genetycznie uwarunkowanym zespołem licznych wad wrodzonych, który charakteryzuje się wodogłowiem i przepukliną przeponową oraz wielkogłowiem, szeroko otwartym przednim ciemiączkiem, łódkowatym brzuchem i obniżonym napięciem. Ponadto mogą wystąpić wrodzone wady serca, wielowodzie i nadciśnienie płucne."},"cs":{"name":"Syndrom zahrnující hydranencefalus a brániční syndrom, letální typ"},"uk":{"name":"Летальний синдром гідроенцефалії-діафрагмальної грижі","definition":"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated."},"zh":{"name":"致死性积水性无脑畸形-膈疝","definition":"致死性积水性无脑畸形-横膈疝综合征是一种罕见的、遗传性、致死性、多发性先天性异常综合征，以积水性无脑畸形和横膈疝为特征，同时伴有大头畸形、前囟大开、舟状腹和肌张力低下。此外，先天性心脏病、羊水过多和肺动脉高压也与此有关。"},"tr":{"name":"Primer hidranensefali-diyafragmatik herni sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567527","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":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[{"symbol":"PLAT","name":"plasminogen activator, tissue type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27417437[PMID]_6401391[PMID]_665314[PMID]","hgnc":"9051","ensembl":"ENSG00000104368","omim":"173370","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27417437[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"27417437[PMID]"}],"phenotypes":null}