{"orpha":500135,"name":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MARCH syndrome"],"definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die <i>in utero</i> or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500135/","orphanet_url":"https://www.orpha.net/en/disease/detail/500135","names":{"fr":{"name":"Syndrome de neurones multinuclés-anhydramnios-dysplasie rénale-hypoplasie cérébelleuse-hydranencéphalie","definition":"Anomalies congénitales multiples/syndrome dysmorphique létal caractérisé par une hydranencéphalie sévère et une dysplasie ou une agénésie rénale. La grossesse est compliquée par un oligoamnios ou un anhydramnios, entraînant chez le foetus des signes de la séquence de Potter (notamment un faciès typique et une microrétrognathie, des contractures des membres, un pied bot et une hypoplasie pulmonaire). Les foetus atteints décèdent in utero ou après la naissance. L'histologie du cerveau met en évidence la présence généralisée de neurones multinucléés et de cellules gliales."},"de":{"name":"Mehrkernige Neuronale Zellen-Anhydramnion-renale Dysplasie-zerebelläre Hypoplasie-Hydranenzephalie-Syndrom","synonyms":["MARCH-Syndrom"],"definition":"Ein genetisch bedingtes letales Dysmorphie-Syndrom, das durch schwere Hydranenzephalie und Nierendysplasie oder -agenesie gekennzeichnet ist. Die Schwangerschaft wird durch Oligo- oder Anhydramnion kompliziert, was beim Fötus zu Merkmalen der Potter-Sequenz führt (einschließlich typischer Fazies und Mikroretrognathie, Gliedmaßenkontrakturen, Klumpfüße und pulmonaler Hypoplasie). Betroffene Föten sterben entweder <i>in utero</i> oder kurz nach der Geburt. Die Histologie des Gehirns zeigt ein weit verbreitetes Vorkommen von vielkernigen Neuronen und Gliazellen."},"es":{"name":"Síndrome de neuronas multinucleadas-anhidramnios-displasia renal-hipoplasia cerebelosa-hidranencefalia","synonyms":["Síndrome MARCH"],"definition":"Es un síndrome dismórfico/con múltiples anomalías congénitas, letal, genético y poco frecuente, caracterizado por hidranencefalia grave y displasia o agenesia renal. El embarazo se complica por oligo- o anhidramnios, lo que da lugar a características de la secuencia de Potter (que incluyen facies característica y microrretrognatia, contracturas de las extremidades, talipes equinovaro e hipoplasia pulmonar) en el feto. Los fetos afectos fallecen intraútero o poco después del nacimiento. La histología cerebral muestra una presencia generalizada de neuronas multinucleadas y células gliales."},"it":{"name":"Sindrome neuroni multinucleati-anidramnios-displasia renale-ipoplasia cerebellare-idranencefalia","definition":"Si tratta di una malattia genetica rara e letale da anomalie/dismorfismi congeniti multipli, caratterizzata da idranencefalia grave e displasia o agenesia renale. La gravidanza è complicata dall'oligoidramnios o dall'anidramnios, che esitano nella sequenza di Potter nel feto (facies tipica e microretrognazia, contratture degli arti, piedi equino-vari e ipoplasia dei polmoni). I feti affetti muoiono in utero o poco dopo la nascita. L'esame istologico del cervello mostra la presenza diffusa di neuroni multinucleati e cellule gliali."},"nl":{"name":"Multinucleaire neuronen - anhydramnion - renale dysplasie - cerebellaire hypoplasie - hydranencefalie-syndroom","synonyms":["MARCH-syndroom"],"definition":"Een zeldzaam, genetisch letaal meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door ernstige hydranencefalie en dysplasie of agenesie van nier. Zwangerschap wordt gecompliceerd door oligo- of anhydramnion, wat leidt tot kenmerken van Potter-sequentie (inclusief typisch gelaat en microretrognathie, contracturen van ledematen, talipes equinovarus (klompvoet), en pulmonale hypoplasie) bij foetussen. Getroffen foetussen sterven <i>in utero</i> of kort na de geboorte. Histologie van hersenen toont wijdverspreide aanwezigheid van multinucleaire neuronen en gliacellen."},"pt":{"name":"Síndrome de neurónios multinucleados-anidrâmnio-displasia renal-hipoplasia cerebelosa-hidranencefalia"},"pl":{"name":"Zespół wielojądrzastych neuronów, bezwodzia, dysplazji nerek, hipoplazji móżdżku i hydranencefalii","synonyms":["MARCH syndrome"]},"cs":{"name":"Syndrom zahrnující mnohojaderné neurony, anhydramnion, dysplázii ledvin, mozečkovou hypoplázii a hydranencefalii","synonyms":["MARCH syndrome"]},"uk":{"name":"Багатоядерні нейрони-ангідрамніоз-ниркова дисплазія-гіпоплазія мозочка-гідраненцефалічний синдром","synonyms":["Синдром MARCH"],"definition":"A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die <i>in utero</i> or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells."},"zh":{"name":"多核神经元-羊水过少-肾发育不良-小脑发育不全-积水性无脑畸形综合征","synonyms":["MARCH syndrome"],"definition":"一种罕见的遗传性致死性多发性先天性异常/畸形综合征，其特征是严重的积水性无脑畸形和肾脏发育不良或缺如。妊娠复杂性少羊水或无羊水，导致胎儿出现Potter系列的特征（包括典型的面容和下颌微缩、肢体挛缩、马蹄内翻足和肺发育不全）。受影响的胎儿要么在子宫内死亡，要么在出生后不久死亡。脑组织学显示广泛存在多核神经元和胶质细胞。"},"tr":{"name":"Multikor nöronlar-anhidramnios-renal displazi-serebellar hipoplazi-hidranensefali sendromu","synonyms":["MARCH sendromu"]}},"xrefs":[{"source":"OMIM","code":"236500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856053","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]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"CEP55","name":"centrosomal protein 55","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28264986[PMID]","hgnc":"1161","ensembl":"ENSG00000138180","omim":"610000","loci":["10q23.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"28264986[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28264986[PMID]"}],"phenotypes":null}