{"orpha":500533,"name":"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMSE syndrome"],"definition":"A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500533/","orphanet_url":"https://www.orpha.net/en/disease/detail/500533","names":{"fr":{"name":"Syndrome de polyhydramnios-mégalencéphalie-épilepsie symptomatique","synonyms":["Syndrome PMSE"],"definition":"Maladie neurologique génétique rare caractérisée par une grossesse compliquée par un polyhydramnios, une épilepsie sévère intraitable se manifestant dans la petite enfance, une hypotonie sévère, une diminution de la masse musculaire, un retard global du développement, une dysmorphie cranio-faciale (un visage allongé, un grand front, sourcils en pointe, large arête nasale, hypertélorisme, bouche béante aux lèvres épaisses) et une macrocéphalie due à une mégalencéphalie et à une hydrocéphalie chez la plupart des patients. D'autres signes cliniques ont été rapportées, notamment des malformations cardiaques telles que les malformations du septum interauriculaire, le diabète insipide et la néphrocalcinose."},"de":{"name":"Polyhydramnion-Megalenzephalie-symptomatische Epilepsie-Syndrom","synonyms":["PMSE-Syndrom"],"definition":"Eine genetisch bedingte neurologische Störung, die gekennzeichnet ist durch eine komplizierte Schwangerschaft (Polyhydramnion), schwere hartnäckige Epilepsie im Säuglingsalter, schwere Hypotonie, verminderte Muskelmasse, globale Entwicklungsverzögerung, kraniofaziale Dysmorphien (langes Gesicht, große Stirn, spitze Augenbrauen, breiter Nasenrücken, Hypertelorismus, großer Mund mit dicken Lippen) und Makrozephalie aufgrund von Megalenzephaliesowie Hydrozephalus bei den meisten Patienten. Weitere Merkmale sind Herzanomalien wie Vorhofseptumdefekte, Diabetes insipidus und Nephrokalzinose."},"es":{"name":"Síndrome de polihidramnios-megalencefalia-epilepsia sintomática","synonyms":["Síndrome PMSE"],"definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por embarazo complicado por polihidramnios, epilepsia intratable grave que debuta en la lactancia, hipotonía grave, disminución de la masa muscular, retraso global del desarrollo y dismorfia craneofacial (cara alargada, frente grande, cejas puntiagudas, puente nasal ancho, hipertelorismo, boca grande con labios gruesos). La mayoría de los pacientes presenta macrocefalia debido a la megalencefalia y a la hidrocefalia. Otros hallazgos adicionales descritos incluyen anomalías cardíacas como la comunicación interauricular, diabetes insípida y nefrocalcinosis, entre otras."},"it":{"name":"Sindrome polidramnios - megalencefalia - epilessia sintomatica","definition":"Si tratta di una malattia neurologica genetica rara caratterizzata da una gravidanza complicata dal polidramnios, l'epilessia grave non trattabile ad esordio nella prima infanzia, l'ipotonia grave, la riduzione della massa muscolare, il ritardo dello sviluppo globale, i dismorfismi craniofacciali (viso allungato, fronte ampia, sopracciglia arcuate, sella nasale larga, ipertelorismo, bocca larga con labbra carnose) e, nella maggior parte dei pazienti, la macrocefalia secondaria alla megalencefalia e all'idrocefalo. I pazienti possono presentare anche cardiopatie (difetti del setto interatriale), diabete insipido e nefrocalcinosi."},"nl":{"name":"Polyhydramnion - megalencefalie - symptomatische epilepsie-syndroom","synonyms":["PMSE-syndroom"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door een zwangerschap gecompliceerd door polyhydramnion, ernstige refractaire epilepsie die zich presenteert in de zuigelingentijd, ernstige hypotonie, verminderde spiermassa, algehele ontwikkelingsachterstand, craniofaciale dysmorfie (lang aangezicht, groot voorhoofd, opgetrokken wenkbrauwen, brede neusbrug, hypertelorisme, grote mond met dikke lippen), en macrocefalie als gevolg van megalencefalie en hydrocefalie bij de meeste patiënten. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer hartanomalieën zoals atriumseptumdefect, diabetes insipidus, en nefrocalcinose."},"pt":{"name":"Síndrome de epilepsia sintomática por polidramnios-megalencefalia"},"pl":{"name":"Zespół wielowodzia, padaczki objawowej i megalencefalii","synonyms":["PMSE syndrome"]},"cs":{"name":"Syndrom zahrnující polyhydramnion, megalencefalii a symptomatickou epilepsii","synonyms":["PMSE syndrome","PMSE syndrom"]},"uk":{"name":"Синдром полігідрамніозу-мегаленцефалії-симптоматичної епілепсії","synonyms":["Синдром PMSE"],"definition":"A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others."},"zh":{"name":"羊水过多-巨颅畸形-症状性癫痫综合征","synonyms":["PMSE syndrome"],"definition":"一种罕见的遗传性神经系统疾病，其特征是妊娠期并发多发性水肿，婴儿期出现严重的难治性癫痫，严重的肌张力低下，肌肉质量下降，全面发育迟缓，颅面畸形（长脸、大额头、尖角眉、宽鼻梁、器官间距过远、嘴大且唇厚），大多数患者因巨脑症和脑积水而出现大头畸形。已报道的其他特征还包括心脏异常，如房间隔缺损、尿崩症、肾钙质沉着症等。"},"tr":{"name":"Polihidramnios-megalensefali-semptomatik epilepsi sendromu","synonyms":["PMSE sendromu"]}},"xrefs":[{"source":"OMIM","code":"611087","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0012611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970203","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12913","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"STRADA","name":"STE20 related adaptor alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28688840[PMID]_27170158[PMID]","hgnc":"30172","ensembl":"ENSG00000266173","omim":"608626","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"27170158[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27170158[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-20","source":"17522105[PMID]_27170158[PMID]_30311510[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","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:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012430","label":"Cerebral white matter hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030891","label":"Periventricular white matter hyperintensities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}