{"orpha":2515,"name":"Microcephaly-cardiomyopathy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Winship-Viljoen-Leary syndrome"],"definition":"Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2515/","orphanet_url":"https://www.orpha.net/en/disease/detail/2515","names":{"fr":{"name":"Syndrome de microcéphalie-cardiomyopathie","synonyms":["Syndrome de Winship-Viljoen-Leary"],"definition":"Le syndrome de microcéphalie-cardiomyopathie se caractérise par une déficience intellectuelle sévère, une microcéphalie et une cardiomyopathie dilatée. Des anomalies des doigts et des pieds sont également présentes. Ce syndrome a été décrit chez trois individus et une transmission de type autosomique récessive est suggérée."},"de":{"name":"Mikrozephalie-Kardiomyopathie-Syndrom","synonyms":["Winship-Viljoen-Leary-Syndrom"],"definition":"Das Mikrozephalie-Kardiomyopathie-Syndrom ist charakterisiert durch eine schwere Intelligenzminderung, Mikrozephalie und dilatative Kardiomyopathie. Auch über Hand- und Fußfehlbildungen wurde berichtet. Die Krankheit wurde bei drei Patienten beschrieben. Die Vererbung ist autosomal-rezessiv."},"es":{"name":"Síndrome de microcefalia-miocardiopatía","synonyms":["Síndrome de Winship-Viljoen-Leary"],"definition":"La microcefalia-cardiomiopatía se caracteriza por discapacidad intelectual grave, microcefalia y cardiomiopatía dilatada. También se han descrito anomalías de los pies y de las manos. El síndrome ha sido descrito en tres individuos. La herencia es autosómica recesiva."},"it":{"name":"Microcefalia - cardiomiopatia","synonyms":["Sindrome di Winship-Viljoen-Leary"]},"nl":{"name":"Microcefalie - cardiomyopathie-syndroom","synonyms":["Syndroom van Winship-Viljoen-Leary"],"definition":"Microcefalie - cardiomyopathie-syndroom wordt gekenmerkt door ernstige intellectuele achterstand, microcefalie, en gedilateerde cardiomyopathie. Anomalieën van hand en voet werden ook reeds gerapporteerd. Het syndroom werd beschreven bij drie individuen. Transmissie gebeurt autosomaal recessief."},"pt":{"name":"Síndrome de microcefalia-miocardiopatia","synonyms":["Síndrome Winship-Viljoen-Leary"]},"pl":{"name":"Małogłowie - kardiomiopatia","synonyms":["Zespół Winship, Viljoena i Leary"]},"cs":{"name":"Syndrom zahrnující mikrocefalii a kardiomyopatii","synonyms":["Winshipův-Viljoenův-Learyho syndrom","Winship-Viljoen-Learyho syndrom"]},"uk":{"name":"Синдром мікроцефалії-кардіоміопатії","synonyms":["Синдром Віншипа-Вільйоена-Лірі"],"definition":"Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive."},"zh":{"name":"小头畸形-心肌病综合征","synonyms":["Winship-Viljoen-Leary综合征"]},"tr":{"name":"Mikrosefali-kardiyomiyopati sendromu","synonyms":["Winship-Viljoen-Leary sendromu"]}},"xrefs":[{"source":"OMIM","code":"251220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009618","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3609","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":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1956062[PMID]_10544231[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1956062[PMID]_10544231[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-29","source":null,"terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","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}]}}