{"orpha":2941,"name":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Bonnemann-Meinecke syndrome"],"definition":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2941/","orphanet_url":"https://www.orpha.net/en/disease/detail/2941","names":{"fr":{"name":"Syndrome de porencéphalie-hypoplasie cérébelleuse-malformations internes","synonyms":["Syndrome de Bonnemann-Meinecke"],"definition":"Le syndrome de porencéphalie-hypoplasie cérébelleuse-malformations internes est un syndrome malformatif rare du système nerveux central, caractérisé par une porencéphalie bilatérale, une absence de septum pellicidum et une hypoplasie cérébelleuse avec absence de vermis. Les manifestations additionnelles incluent une dysmorphie faciale (suture métopique proéminente, hypertélorisme, plis épicanthiques, palais ogival), une macrocéphalie, une cornée nébuleuse, un situs inversus, une tétralogie de Fallot, une communication interatriale et/ou des convulsions."},"de":{"name":"Porenzephalie-zerebelläre Hypoplasie-interne Fehlbildungen-Syndrom","synonyms":["Bonnemann-Meinecke-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom des Zentralnervensystems, das durch beidseitige Porenzephalie, Fehlen des Septum pellucidum und Kleinhirnhypoplasie mit fehlendem Vermis gekennzeichnet ist. Zusätzlich wurden dysmorphe Gesichtszüge (Hypertelorismus, Epikanthusfalten, hochgewölbter Gaumen, prominente metopische Naht), Makrozephalie, Hornhauttrübung, Situs inversus, Fallot-Tetralogie, Vorhofseptumdefekte und/oder Krampfanfälle beobachtet."},"es":{"name":"Síndrome de porencefalia-hipoplasia cerebelosa-malformaciones internas","synonyms":["Síndrome de Bonnemann-Meinecke"],"definition":"El síndrome de porencefalia-hipoplasia cerebelosa-malformaciones internas es un síndrome de malformación del sistema nervioso central poco frecuente caracterizado por porencefalia bilateral, ausencia del septum pellucidum e hipoplasia cerebelosa con vermis ausente. Además, se han observado rasgos faciales dismórficos (hipertelorismo, pliegues epicánticos, paladar alto y arqueado, sutura metópica prominente), macrocefalia, opacidad corneal, situs inversus, tetralogía de Fallot, defectos del tabique auricular y / o convulsiones."},"it":{"name":"Porencefalia - ipoplasia cerebellare - malformazioni interne","synonyms":["Sindrome di Bonnemann-Meinecke"],"definition":"La porencefalia con ipoplasia cerebellare e malformazioni interne è una malformazione rara del sistema nervoso centrale, caratterizzata da porencefalia bilaterale, assenza del setto pellucido e ipoplasia cerebellare con agenesia del verme. Altri segni clinici sono i dismorfismi facciali (ipertelorismo, epicanto, palato ogivale, sutura metopica prominente), la macrocefalia, le opacità corneali, il situs inversus, la tetralogia di Fallot, i difetti del setto atriale e/o le crisi epilettiche."},"nl":{"name":"Porencefalie - cerebellaire hypoplasie - inwendige misvormingen","synonyms":["Bonnemann-Meinecksyndroom"],"definition":"Porencefalie - cerebellaire hypoplasie - inwendige misvormingen-syndroom is zeldzaam malformatiesyndroom van het centrale zenuwstelsel dat gekarakteriseerd wordt door bilaterale porencefalie, afwezigheid van het septum pellucidum en cerebellaire hypoplasie met afwezige vermis. Bijkomend werden ook dysmorfe gelaatskenmerken (hypertelorisme, epicanthusplooien, hoog gebogen verhemelte, prominente metopische sutuur), macrocefalie, vertroebeling van het hoornvlies, situs inversus, tetralogie van Fallot, atriumseptumdefecten en/of insulten waargenomen."},"pt":{"name":"Síndrome de porencefalia-hipoplasia cerebelosa-malformações internas","synonyms":["Síndrome Bonnemann-Meinecke"]},"pl":{"name":"Porencefalia - hipoplazja możdżku - malformacje wewnętrzne","synonyms":["Zespół Bonnemanna i Meinecke'a"]},"cs":{"name":"Syndrom zahrnující porencefalii, mozečkovou hypoplázii a vnitřní malformace","synonyms":["Bonnemannové-Meineckeův syndrom","Bonnemann-Meineckeův syndrom"]},"uk":{"name":"Синдром поренцефалії-гіпоплазії мозочка-внутрішніх вад розвитку","synonyms":["Синдром Боннемана-Мейнеке"],"definition":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed."},"zh":{"name":"脑穿通畸形-小脑发育不全-内部结构畸形综合征","synonyms":["Bonnemann-Meinecke综合征"]},"tr":{"name":"Porensefali-serebellar hipoplazi-internal malformasyon sendromu","synonyms":["Bonnemann-Meinecke sendromu"]}},"xrefs":[{"source":"OMIM","code":"601322","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796119","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8737647[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8737647[PMID]"}],"phenotypes":null}