{"orpha":500159,"name":"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500159/","orphanet_url":"https://www.orpha.net/en/disease/detail/500159","names":{"fr":{"name":"Syndrome de microcéphalie-hypoplasie du corps calleux et vermis cérébelleux-dysmorphie faciale-déficience intellectuelle","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard global du développement et une déficience intellectuelle modérée à sévère, ainsi que par d'autres signes cliniques variables, telles qu'une macrocéphalie ou microcéphalie, une épilepsie, une hypotonie, des troubles du comportement, des mouvements stéréotypés et une dysmorphie faciale (sourcils arqués, longues fentes palpébrales, arête nasale proéminente, nez antéversé, une dysplasie des oreilles et une bouche large). L'IRM peut révéler des anomalies cérébelleuses, une hypoplasie du corps calleux, des ventricules élargis, une polymicrogyrie ou des anomalies de la substance blanche."},"de":{"name":"Mikrozephalie-Corpus callosum- und zerebelläre Vermishypoplasie-Gesichtsdysmorphie-Intelligenzminderung-Syndrom","definition":"Ein genetisch bedingtes Dysmorphie-Syndrom mit multiplen Anomalien, gekennzeichnet durch eine globale Entwicklungsverzögerung und eine mäßige bis schwere Intelligenzminderung sowie verschiedene andere Manifestationen wie Makro- oder Mikrozephalie, Epilepsie, Hypotonie, Verhaltensstörungen, stereotype Bewegungen und Gesichtsdysmorphien (u. a. gewölbte Augenbrauen, lange Lidspalten, prominenter Nasenrücken, nach oben gebogene Nase, dysplastische Ohren und breiter Mund). Die zerebrale Bildgebung kann Anomalien des Kleinhirns, ein hypoplastisches Corpus callosum, vergrößerte Ventrikel, Polymikrogyrien oder Anomalien der weißen Substanz zeigen."},"es":{"name":"Síndrome de microcefalia-hipoplasia del cuerpo calloso y del vérmix cerebeloso-dismorfia facial-discapacidad intelectual","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de base genética, y poco frecuente caracterizado por un retraso global del desarrollo y discapacidad intelectual de moderada a grave, así como otras manifestaciones adicionales variables, tales como macro- o microcefalia, epilepsia, hipotonía, trastornos de conducta, movimientos estereotipados y dismorfia facial (incluyendo cejas arqueadas, fisuras palpebrales alargadas, puente nasal prominente, nariz respingona, orejas displásicas y boca ancha), entre otros. La neuroimagen puede mostrar anomalías cerebelosas, cuerpo calloso hipoplásico, ventrículos agrandados, polimicrogiria o anomalías de la sustancia blanca."},"it":{"name":"Sindrome microcefalia-ipoplasia del corpo calloso e del verme cerebellare-dismorfismi facciali-disabilità intellettiva","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva moderata-grave, e altri segni clinici variabili che comprendono la macrocefalia o la macro-/microcefalia, l'epilessia, l'ipotonia, i problemi comportamentali, i movimenti stereotipati e i dismorfismi facciali (sopracciglia arcuate, rime palpebrali lunghe, sella nasale prominente, naso con punta rivolta verso l'alto, orecchie displasiche e bocca larga). Le neuroimmagini evidenziano anomalie cerebellari, ipoplasia del corpo calloso, ventricoli dilatati, polimicrogiria o anomalie della sostanza bianca."},"nl":{"name":"Microcefalie - hypoplasie van corpus callosum en vermis cerebelli - faciale dysmorfie - intellectuele achterstand-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand en matige tot ernstige intellectuele achterstand, alsook variabele andere manifestaties, zoals onder meer macro- of microcefalie, epilepsie, hypotonie, gedragsproblemen, stereotiepe bewegingen, en faciale dysmorfie (met onder meer gebogen wenkbrauwen, lange ooglidspleten, prominente neusbrug, wipneus, dysplastische oren, en brede mond). Beeldvorming van hersenen toont mogelijk cerebellaire anomalieen, hypoplastisch corpus callosum, vergrote ventrikels, polymicrogyrie, of afwijkingen van witte stof."},"pt":{"name":"Síndrome de microcefalia-hipoplasia do corpo caloso e do vermis cerebeloso-dismorfia facial-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół małogłowia, hipoplazji ciała modzelowatego i robaka móżdżku, dysmorfii twarzy i niepełnosprawności intelektualnej"},"cs":{"name":"Syndrom zahrnující mikrocefalii, hypoplázii corpus callosum a mozečku, faciální dysmorfismus a mentální retardaci"},"uk":{"name":"Синдром мікроцефалії-гіпоплазії мозолистого тіла та червяка мозочка-дисморфізму обличчя-інтелектуальної недостатності","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities."},"zh":{"name":"小头畸形-胼胝体和小脑发育不良-面部畸形-智力障碍"},"tr":{"name":"Mikrosefali-korpus kallozum ve serebellar vermis hipoplazisi-fasiyal dismorfizm-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"617751","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030913","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540321","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":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":"RAC1","name":"Rac family small GTPase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28886345[PMID]","hgnc":"9801","ensembl":"ENSG00000136238","omim":"602048","loci":["7p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"28886345[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28886345[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-09","source":"28886345[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200007","label":"Abnormal size of the palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030515","label":"Moderately reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002786","label":"Tracheobronchomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}