{"orpha":580933,"name":"Lethal brain and heart developmental defects","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-580933/","orphanet_url":"https://www.orpha.net/en/disease/detail/580933","names":{"fr":{"name":"Anomalies létales du développement cardiaque et cérébral","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un retard de croissance intra-utérin à début précoce, un oedème généralisé, une dysmorphie cranio-faciale (microcéphalie, brachycéphalie, front proéminent, hypertélorisme, fentes palpébrales courtes ou absence d'os nasal, hypoplasie cérébelleuse, inversion sexuelle chez les foetus de sexe masculin, malformations cardiaques congénitales, y compris anomalies septales et valvulaires et cardiomégalie) et fausse couche tardive."},"de":{"name":"Gehirn- und Herzentwicklungsdefekte, letale","definition":"Ein letales genetisch bedingtes Dysmorphiesyndrom, das gekennzeichnet ist durch frühe intrauterine Wachstumsretardierung, generalisierte Ödeme, kraniofaziale Dysmorphien (wie Mikrozephalie, Brachyzephalie, Balkonstirn, Hypertelorismus, kurze Lidspalten oder fehlendes Nasenbein), zerebelläre Hypoplasie, Geschlechtsumkehr bei männlichen Feten, angeborene Herzfehler (einschließlich Septum- und Klappendefekte und Kardiomegalie) und späte fetale Verluste."},"es":{"name":"Defectos del desarrollo cerebral y cardíaco letales","definition":"Es un síndrome dismórfico/con múltiples anomalías congénitas letales, de origen genético y poco frecuente, caracterizado por retraso temprano del crecimiento intrauterino, edema generalizado, dismorfia craneofacial (como microcefalia, braquicefalia, protuberancia frontal, hipertelorismo, fisuras palpebrales cortas o ausencia de hueso nasal), hipoplasia cerebelosa, inversión sexual en fetos masculinos, defectos cardíacos congénitos (incluyendo defectos septales y valvulares y cardiomegalia) y pérdida fetal tardía."},"it":{"name":"Difetti letali dello sviluppo cerebrale e cardiaco","definition":"Si tratta di una malattia genetica rara e letale da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo della crescita prenatale precoce, edema generalizzato, dismorfismi craniofacciali (microcefalia, brachicefalia, fronte bombata, ipertelorismo, rime palpebrali corte, agenesia dell'osso del naso), ipoplasia cerebellare, inversione sessuale nei feti maschi, cardiopatie congenite (difetti del setto e delle valvole, cardiomegalia) e aborto tardivo."},"nl":{"name":"Letale ontwikkelingsdefecten van hersenen en hart","definition":"Een zeldzaam, genetisch letaal syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door vroege intra-uteriene groeiretardatie, gegeneraliseerd oedeem, craniofaciale dysmorfie (zoals microcefalie, brachycefalie, boller voorhoofd, hypertelorisme, korte ooglidspleten, of afwezigheid van neusbeen), cerebellaire hypoplasie, geslachtsomkering bij mannelijke foetussen, congenitale hartdefecten (waaronder septum- en klepdefecten, en cardiomegalie), en laat verlies van foetus."},"pt":{"name":"Defeitos do desenvolvimento cardíaco e cerebral fatais","definition":"Múltiplas anomalias congénitas genéticas fatais / síndrome dismórfica caracterizada por atraso de crescimento intrauterino precoce, edema generalizado, dismorfismo craniofacial (ex: microcefalia, braquicefalia, protuberância frontal, hipertelorismo, fissuras palpebrais curtas ou osso nasal ausente), hipoplasia cerebelar, reversão sexual em fetos masculinos, defeitos cardíacos congénitos (incluindo defeitos septais e valvares e cardiomegalia) e aborto tardio."},"pl":{"name":"Letalne wady rozwojowe mózgu i serca"},"cs":{"name":"Letální vývojové vady mozku a srdce"},"uk":{"name":"Летальні вади розвитку мозку та серця","definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss."},"zh":{"name":"致命的脑和心脏发育缺陷"},"tr":{"name":"Letal beyin ve kalp gelişim defektleri"}},"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},{"source":"MONDO","code":"0035581","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5688452","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":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SIRT6","name":"sirtuin 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29555651[PMID]","hgnc":"14934","ensembl":"ENSG00000077463","omim":"606211","loci":["19p13.3"]}],"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":"29555651[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29555651[PMID]"}],"phenotypes":null}