{"orpha":466926,"name":"Seizures-scoliosis-macrocephaly syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SSM syndrome"],"definition":"Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466926/","orphanet_url":"https://www.orpha.net/en/disease/detail/466926","names":{"fr":{"name":"Syndrome de convulsions-scoliose-macrocéphalie","definition":"Maladie neurométabolique génétique rare caractérisée par des crises convulsives, une macrocéphalie, un retard du développement moteur, une déficience intellectuelle modérée, une scoliose sans exostose, une hypotonie musculaire présente depuis la naissance, ainsi qu'un dysfonctionnement rénal. Par ailleurs, des traits faciaux grossiers (hypertélorisme et long philtrum hypoplasique) et une cryptorchidie bilatérale (chez les garçons) sont fréquemment rapportés. D'autres manifestations incluent une motilité gastro-intestinale anormale (entraînant constipation, diarrhée, reflux gastro-oesophagien et dysphagie), des troubles de la marche, un strabisme et des malformations septales ventriculaires."},"de":{"name":"Krämpfe-Skoliose-Makrozephalie-Syndrom","synonyms":["SSM-Syndrom"]},"es":{"name":"Síndrome de crisis-escoliosis-macrocefalia","definition":"Es un trastorno neurometabólico, genético y poco frecuente, caracterizado por convulsiones, macrocefalia, retraso de los hitos motores, discapacidad intelectual moderada, escoliosis sin exostosis, hipotonía muscular presente desde el nacimiento y disfunción renal. También se ha descrito con frecuencia, presencia de rasgos faciales toscos (incluyendo hipertelorismo y filtrum hipoplásico y largo), así como criptorquidia bilateral (en hombres). Otras manifestaciones adicionales incluyen alteración de la motilidad gastrointestinal (que produce estreñimiento, diarrea, reflujo gastroesofágico y disfagia), alteraciones de la marcha, estrabismo y comunicación interventricular."},"it":{"name":"Sindrome crisi epilettiche - scoliosi - macrocefalia","definition":"La sindrome che associa crisi epilettiche, scoliosi e macrocefalia è una malattia neurometabolica genetica rara, caratterizzata da crisi epilettiche, macrocefalia, ritardo dello sviluppo motorio, disabilità intellettiva moderata, scoliosi senza esostosi, ipotonia muscolare congenita e disfunzione renale. Di solito i pazienti presentano anche un aspetto grossolano del viso (ipertelorismo e filtro ipoplastico allungato) e criptorchidismo bilaterale (nei maschi). Altri segni clinici sono le anomalie della motilità gastrointestinale (con conseguente costipazione, diarrea, reflusso gastroesofageo e disfagia) e della deambulazione, lo strabismo e i difetti del setto interventricolare."},"nl":{"name":"Insulten - scoliose - macrocefalie-syndroom","synonyms":["SSM-syndroom"],"definition":"Insulten - scoliose - macrocefalie-syndroom is een zeldzame, genetische neurometabole stoornis die gekarakteriseerd wordt door insulten, macrocefalie, uitgestelde motorische mijlpalen, matige intellectuele achterstand, scoliose zonder exostosen, musculaire hypotonie vanaf de geboorte, alsook nierdisfunctie. Ruwe gelaatskenmerken (waaronder hypertelorisme en lang hypoplastisch filtrum) en bilateraal cryptorchisme (bij mannen) worden ook regelmatig gerapporteerd. Bijkomende manifestaties omvatten abnormale gastro-intestinale motiliteit (wat leidt tot constipatie, diarree, gastro-oesofageale reflux en dysfagie), gangstoornissen, strabisme en ventrikelseptumdefecten."},"pt":{"name":"Síndrome de convulsões-escoliose-macrocefalia"},"pl":{"name":"Zespół napadów padaczkowych, skoliozy i małogłowia","synonyms":["Zespół SSM"],"definition":"*Zespół napadów padaczkowych, skoliozy i małogłowia jest rzadkim, genetycznie uwarunkowanym zaburzeniem neurometabolicznym, które charakteryzuje się napadami padaczkowymi, wielkogłowiem, opóźnieniem kamieni milowych rozwoju ruchowego, umiarkowaną niepełnosprawnością intelektualną, skoliozą bez wyrośli kostnych, hipotonią mięśniową obecną od urodzenia, a także zaburzeniami czynności nerek. Często opisywano grube rysy twarzy (w tym hiperteloryzm i długą, hipoplastyczna rynienkę podnosową) oraz obustronne wnętrostwo (u mężczyzn). Dodatkowe objawy obejmują nieprawidłową motorykę przewodu pokarmowego (powodującą zaparcia, biegunkę, refluks żołądkowo-przełykowy i zaburzenia połykania), zaburzenia chodu, zez i wady przegrody międzykomorowej."},"cs":{"name":"Syndrom zahrnující křeče, skoliózu a makrocefalii","synonyms":["SSM syndrome","SSM syndrom"]},"uk":{"name":"Синдром судоми-сколіоз-макроцефалія","synonyms":["SSM-синдром"],"definition":"Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects."},"zh":{"name":"癫痫-脊髓灰质炎-大头畸形综合征","synonyms":["SSM综合征"],"definition":"癫痫-脊柱侧弯-大头畸形综合征是一种罕见的遗传性神经代谢疾病，其特征是癫痫发作、大头畸形、运动指标延迟、中度智力障碍、无外伤的脊柱侧弯、出生后即出现的肌肉张力低下以及肾功能障碍。粗大面容（包括器官间距过远和长人中且发育不全）和双侧隐睾（男性）也较常见。其他表现包括胃肠运动异常(导致便秘、腹泻、胃食管反流和吞咽困难)、步态障碍、斜视和室间隔缺损。"},"tr":{"name":"Nöbetler-skolyoz-makrosefali sendromu","synonyms":["SSM sendromu"]}},"xrefs":[{"source":"OMIM","code":"616682","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014731","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225248","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EXT2","name":"exostosin glycosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26246518[PMID]","hgnc":"3513","ensembl":"ENSG00000151348","omim":"608210","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"30997052[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30997052[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-03","source":"30997052[PMID]_26246518[PMID]_30288735[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004425","label":"Flat forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null}]}}