{"orpha":83473,"name":"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MPPH syndrome"],"definition":"A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83473/","orphanet_url":"https://www.orpha.net/en/disease/detail/83473","names":{"fr":{"name":"Syndrome de mégalencéphalie-polymicrogyrie-polydactylie post-axiale-hydrocéphalie","synonyms":["Syndrome MPPH"],"definition":"Syndrome rare avec malformation du système nerveux central comme manifestation majeure, caractérisé par une macrocéphalie, une mégalencéphalie, une polymicrogyrie bilatérale périsylvienne, une ventriculomégalie/hydrocéphalie de degré variable, un retard de développement et une déficience intellectuelle, des troubles oromoteurs, une hypotonie, des crises convulsives et une dysmorphie faciale (saillie des bosses frontales, oreilles d'implantation basse, pont nasal plat et palais ogival). Une polydactylie post-axiale d'une ou de plusieurs extrémités est courante."},"de":{"name":"Megalenzephalie-Polymikrogyrie-postaxiale Polydaktylie-Hydrozephalus-Syndrom","synonyms":["MPPH-Syndrom"],"definition":"Ein seltenes Syndrom mit einer Fehlbildung des Zentralnervensystems als Hauptmerkmal, das durch Makrozephalie, Megalenzephalie, bilaterale perisylvianische Polymikrogyrie, Ventrikulomegalie/Hydrozephalus unterschiedlichen Grades, Entwicklungsverzögerung und Intelligenzminderung, oromotorische Dysfunktion, Hypotonie, Krampfanfälle und Gesichtsdysmorphien (wie Balkonstirn, tief angesetzte Ohren, flacher Nasenrücken und hochgewölbter Gaumen) gekennzeichnet ist. Postaxiale Polydaktylie an einer oder mehreren Extremitäten ist ebenfalls häufig."},"es":{"name":"Síndrome de megalencefalia-polimicrogiria-polidactilia postaxial-hidrocefalia","synonyms":["Síndrome MPPH"],"definition":"Es un síndrome poco frecuente que presenta una malformación del sistema nervioso central como hallazgo principal, caracterizado por macrocefalia, megalencefalia, polimicrogiria perisilviana bilateral, ventriculomegalia/ hidrocefalia de grado variable, retraso psicomotor y discapacidad intelectual, disfunción motora oral, hipotonía, crisis epilépticas y rasgos faciales dismórficos (frente prominente, orejas de implantación baja, puente nasal plano y paladar ojival). También es frecuente la polidactilia postaxial de una o más extremidades."},"it":{"name":"Sindrome megalencefalia-polimicrogiria-polidattilia postassiale-idrocefalo","synonyms":["Sindrome MPPH"],"definition":"Si tratta di una malattia rara, il cui segno clinico principale è una malformazione del sistema nervoso centrale, caratterizzata da macrocefalia, megalencefalia, polimicrogiria perisilviana bilaterale, ventricolomegalia/idrocefalo di gravità variabile, ritardo dello sviluppo e disabilità intellettiva, disfunzione oromotoria, ipotonia, crisi epilettiche e dismorfismi facciali (fronte bombata, orecchie a basso impianto, sella nasale piatta e palato ogivale). È comune anche la polidattilia postassiale ad uno o più arti."},"nl":{"name":"Megalencefalie - polymicrogyrie - postaxiale polydactylie - hydrocefalus-syndroom","synonyms":["MPPH-syndroom"],"definition":"Een zeldzaam syndroom met een malformatie van centraal zenuwstelsel als belangrijk kenmerk, gekarakteriseerd door macrocefalie, megalencefalie, bilaterale perisylvische polymicrogyrie, variabele gradaties van ventriculomegalie/hydrocefalie, ontwikkelingsachterstand en intellectuele achterstand, oromotorische disfunctie, hypotonie, insulten, en dysmorfe gelaatskenmerken (zoals boller voorhoofd, laagstaande oren, platte neusbrug, en hoog gewelfd verhemelte). Postaxiale polydactylie van een of meer ledematen komt ook vaak voor."},"pt":{"name":"Síndrome de megalencefalia-polimicrogiria-polidactilia pós-axial-hidrocefalia","synonyms":["Síndrome MPPH"]},"pl":{"name":"Mózg olbrzymi - polimikrogyria - polidaktylia zaosiowa - wodogłowie","synonyms":["Zespół MPPH"]},"cs":{"name":"Syndrom zahrnující megalencefalii, polymikrogyrii, postaxiální polydaktylii a hydrocefalus","synonyms":["MPPH syndrom"]},"uk":{"name":"Синдром мегаленцефалії-полімікрогірії-постаксіальної полідактилії-гідроцефалії","synonyms":["Синдром MPPH"],"definition":"A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common."},"zh":{"name":"巨脑-多小脑回-轴后性多指症-脑积水综合征","synonyms":["MPPH综合征"]},"tr":{"name":"Megalensefali-polimikrogri-postaksiyal polidaktili-hidrosefali sendromu","synonyms":["MPPH sendromu"]}},"xrefs":[{"source":"OMIM","code":"603387","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615937","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615938","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302893","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10341","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"CCND2","name":"cyclin D2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24705253[PMID]","hgnc":"1583","ensembl":"ENSG00000118971","omim":"123833","loci":["12p13.32"]},{"symbol":"AKT3","name":"AKT serine/threonine kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22729224[PMID]","hgnc":"393","ensembl":"ENSG00000117020","omim":"611223","loci":["1q43-q44"]},{"symbol":"PIK3R2","name":"phosphoinositide-3-kinase regulatory subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22729224[PMID]","hgnc":"8980","ensembl":"ENSG00000105647","omim":"603157","loci":["19p13.11"]},{"symbol":"PIK3R2","name":"phosphoinositide-3-kinase regulatory subunit 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26520804[PMID]","hgnc":"8980","ensembl":"ENSG00000105647","omim":"603157","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":62.0,"area":"Worldwide","status":"Validated","source":"27854409[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27854409[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001355","label":"Megalencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}