{"orpha":2519,"name":"Microcephaly-seizures-intellectual disability-heart disease syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2519/","orphanet_url":"https://www.orpha.net/en/disease/detail/2519","names":{"fr":{"name":"Syndrome de microcéphalie-épilepsie-déficience intellectuelle-cardiopathie","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une microcéphalie, une déficience intellectuelle, des crises d'épilepsie et des malformations cardiaques congénitales (par exemple, communication interauriculaire/interventriculaire, hypoplasie de la crosse aortique avec persistance du canal artériel). Parmi les autres manifestations figurent : hypothyroïdie légère, anomalies squelettiques, micropénis, retard de développement psychomoteur, dysmorphie faciale (épicanthus, pont nasal déprimé, antitragus proéminent) et maladie veino-occlusive pulmonaire. Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Mikrozephalie-Krämpfe-Intelligenzminderung-Kardiopathie-Syndrom","definition":"Ein seltenes, kongenitales Fehlbildungssyndrom, das durch Mikrozephalie, Intelligenzminderung, Krampfanfälle und angeborene Herzfehler (z. B. Vorhof-/Ventrikelseptumdefekt, hypoplastischer Aortenbogen mit persistierendem Ductus arteriosus) gekennzeichnet ist. Weitere Manifestationen sind eine leichte Hypothyreose, Skelettanomalien, Mikropenis, verzögerte psychomotorische Entwicklung, dysmorphe Gesichtszüge (einschließlich Epikanthus, vertiefter Nasenrücken, prominenter Antitragus) und eine pulmonale Gefäßverschlusskrankheit. Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur. \""},"es":{"name":"Síndrome de microcefalia-crisis-discapacidad intelectual-cardiopatía","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por microcefalia, discapacidad intelectual, convulsiones y defectos cardíacos congénitos (p. ej. comunicación interauricular/interventricular, arco aórtico hipoplásico con ductus arterioso persistente). Otras manifestaciones adicionales incluyen leve hipotiroidismo, anomalías esqueléticas, micropene, retraso del desarrollo psicomotor, rasgos faciales dismórficos (epicanto, puente nasal deprimido, prominencia del antitrago) y enfermedad veno-oclusiva- pulmonar. No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome microcefalia-crisi epilettiche-disabilità intellettiva-cardiopatia","definition":"È una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da microcefalia, disabilità intellettiva, crisi epilettiche e cardiopatie congenite (ad es. difetto del setto interatriale/interventricolare, ipoplasia dell'arco aortico con pervietà del dotto arterioso). Altri segni clinici sono l'ipotiroidismo lieve, le anomalie scheletriche, il micropene, il ritardo dello sviluppo psicomotorio, i dismorfismi facciali (epicanto, sella nasale infossata, antitrago prominente) e l'occlusione delle vene polmonari. Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Microcefalie - epileptische aanvallen - intellectuele achterstand - hartziekte-syndroom","definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door microcefalie, intellectuele achterstand, insulten, en congenitale hartdefecten (e.g. atrium-/ventrikelseptumdefect, hypoplastische aortaboog met persisterende ductus arteriosus). Bijkomende manifestaties zijn onder meer milde hypothyreoïdie, skeletanomalieën, micropenis, psychomotorische ontwikkelingsachterstand, dysmorfe gelaatskenmerken (waaronder epicanthus, ingezakte neusbrug, prominente antitragus), en pulmonale vasculaire occlusieve ziekte. Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de microcefalia-convulsões-perturbação do desenvolvimento intelectual-cardiopatia"},"pl":{"name":"Mikrocefalia - napady padaczkowe - niepełnosprawność intelektualna - choroba serca"},"cs":{"name":"Syndrom zahrnující mikrocefalii, záchvaty, mentální retardaci a srdeční onemocnění"},"uk":{"name":"Синдром мікроцефалії-судом-інтелектуальної недостатності-серцевих захворювань","definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989."},"zh":{"name":"小头畸形-癫痫-智力低下-心脏病综合征"},"tr":{"name":"Mikrosefali nöbetler-zihinsel yetersizlik-kalp hastalığı sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016719","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537544","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509817","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":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2585466[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2585466[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-19","source":"8320715[PMID]_2585466[PMID]","terms":[{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006934","label":"Congenital nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"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:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}