{"orpha":60040,"name":"Megalencephaly-capillary malformation-polymicrogyria syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCAP","MCM","MCMTC","Macrocephaly-capillary malformation syndrome","Macrocephaly-cutis marmorata telangiectatica congenita syndrome","Megalencephaly-capillary malformation syndrome","Megalencephaly-cutis marmorata telangiectatica congenita syndrome"],"definition":"A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60040/","orphanet_url":"https://www.orpha.net/en/disease/detail/60040","names":{"fr":{"name":"Syndrome mégalencéphalie-malformation capillaire-polymicrogyrie","synonyms":["MCAP","MCM","MCMTC","Syndrome de macrocéphalie-cutis marmorata telangiectatica congenita","Syndrome de mégalencéphalie-cutis marmorata telangiectatica congenita","Syndrome macrocéphalie-malformation capillaire","Syndrome mégalencéphalie-malformation capillaire"],"definition":"Anomalie rare du développement embryonnaire qui se caractérise par des anomalies de la croissance avec une croissance excessive du cerveau et de nombreux tissus somatiques, avec des malformations cutanées capillaires, une mégalencéphalie (MEG) ou une hémimégalencéphalie (HMEG), des malformations du cortex cérébral (en particulier une polymicrogyrie), une dysmorphie faciale typique, des anomalies du développement somatique avec une asymétrie du corps et du cerveau, un retard de développement et des anomalies digitales."},"de":{"name":"Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom","synonyms":["MCM","MCMTC","Makrozephalie - Cutis Marmorata Telangiectatica Congenita","Makrozephalie-kapilläre Fehlbildung-Syndrom","Megalenzephalie - Cutis Marmorata Telangiectatica Congenita","Megalenzephalie-Kapillarfehlbildung-Syndrom"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch eine Wachstumsdysregulation mit Überwachstum des Gehirns und mehrerer somatischer Gewebe gekennzeichnet ist, mit kapillaren Fehlbildungen der Haut, Megalenzephalie (MEG) oder Hemimegalenzephalie (HMEG), kortikalen Hirnanomalien (insbesondere Polymikrogyrie), typischen Gesichtsdysmorphien, Anomalien des somatischen Wachstums mit Asymmetrie des Körpers und des Gehirns, Entwicklungsverzögerung und digitalen Anomalien."},"es":{"name":"Síndrome de megalencefalia-malformación capilar-polimicrogiria","synonyms":["MCAP","MCM","MCMTC","Macrocefalia-cutis marmorata telangiectásica congénita","Megalencefalia-cutis marmorata telangiectásica congénita","Síndrome de macrocefalia-malformación capilar","Síndrome de megalencefalia-malformación capilar"],"definition":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por una desregulación del crecimiento con sobrecrecimiento del cerebro y de múltiples tejidos somáticos, con malformaciones capilares cutáneas, megalencefalia (MEG) o hemimegalencefalia (HMEG), malformaciones cerebrales corticales (en particular polimicrogiria), dismorfia facial característica, anomalías del crecimiento somático con asimetría corporal y cerebral, retraso psicomotor y anomalías digitales."},"it":{"name":"Sindrome megalencefalia-malformazione capillare-polimicrogiria","synonyms":["MCAP","MCM","MCMTC","Macrocefalia - cutis marmorata telangectasica congenita","Megalencefalia - cutis marmorata telangectasica congenita","Sindrome macrocefalia-malformazione capillare","Sindrome megalencefalia-malformazione capillare"],"definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da anomalie della crescita con iperaccrescimento del cervello e di diversi tessuti somatici, malformazioni dei capillari cutanei, megalencefalia (MEG) o emimegalencefalia (HMEG), anomalie della corteccia cerebrale (in particolare polimicrogiria), dismorfismi facciali caratteristici, anomalie della crescita somatica associate ad asimmetria del corpo e del cervello, ritardo dello sviluppo e anomalie delle dita."},"nl":{"name":"Megalencefalie - capillaire malformatie - polymicrogyrie-syndroom","synonyms":["MCAP","MCM","MCMTC","Macrocefalie - capillaire malformatie-syndroom","Macrocefalie - cutis marmorata telangiectatica congenita-syndroom","Megalencefalie - capillaire malformatie-syndroom","Megalencefalie - cutis marmorata telangiectatica congenita-syndroom"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door groeistoornis met overgroei van hersenen en meerdere somatische weefsels, met malformaties van huidcapillairen, megalencefalie (MEG) of hemimegalencefalie (HMEG), corticale hersenanomalieën (vooral polymicrogyrie), typische faciale dysmorfie, afwijkingen van somatische groei met asymmetrie van lichaam en hersenen, ontwikkelingsachterstand en anomalieën van vingers/tenen."},"pt":{"name":"Macrocefalia - cutis marmorata telangiectásica congénita","synonyms":["M-CMTC","Megalencefalia - cutis marmorata telangiectásica congénita"],"definition":"A macrocefalia - malformação capilar (M-MC) caracteriza-se por malformação cutânea dos capilares em associação com macrocefalia com tendência a alargamento progressivo, anomalias do crescimento somático com assimetria do corpo e do cérebro, atraso no desenvolvimento, e face típica, com bochechasproeminentes, bossas frontais, e \" nevus flammeus \" do nariz e/ou do filtro e lábio superior."},"pl":{"name":"Zespół mózg olbrzymi-malformacje kapilarne-polimikrogyria","synonyms":["Makrocefalia - skóra marmurkowata telangiektazja wrodzona","MCAP","MCM","MCMTC","Mózg olbrzymi - - skóra marmurkowata telangiektazja wrodzona","Zespół makrocefalia - malformacje kapilarne","Zespół wielkogłowie - malformacje kapilarne"]},"cs":{"name":"Syndrom zahrnující megalencefalii, kapilární malformaci a polymikrogyrii","synonyms":["MCAP","MCM","M-CMTC","Syndrom zahrnující makrocefalii a kapilární malformaci","Syndrom zahrnující makrocefalii a cutis marmorata telangiectatica congenita","Syndrom zahrnující megalencefalii a kapilární malformaci","Syndrom zahrnující megalencefalii a cutis marmorata telangiectatica congenita"]},"uk":{"name":"Синдром мегаленцефалії-капілярної мальформації-полімікрогірії","synonyms":["Синдром макроцефалії-капілярної мальформації","Синдром вродженої макроцефалії - cutis marmorata telangiectatica congenita","MCAP","MCM","MCMTC","Синдром мегаленцефалічно-капілярної мальформації","Синдром вродженої мегаленцефалії - cutis marmorata telangiectatica"],"definition":"A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies."},"zh":{"name":"巨脑-毛细血管畸形-多小脑回综合征","synonyms":["巨脑-先天性毛细血管扩张性大理石样皮肤综合征"]},"tr":{"name":"Megalensefali-kapiller malformasyon-polimikroji sendromu","synonyms":["MCM","MCAP","MCMTC","Makrosefali-kapiller malformasyon sendromu","Megalensefali-kapiller malformasyon sendromu","Macrocephaly-kutis marmorata telenjiektika konjenita sendromu","Megalensefali-kutis marmorata telenjiektika konjenita sendromu"]}},"xrefs":[{"source":"OMIM","code":"602501","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011240","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865285","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6950","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":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]},{"orpha":728584,"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation","classifications":[147,198]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":458830,"name":"Rare capillary malformation with associated anomalies","classifications":[156]},{"orpha":715453,"name":"Reticulated capillary malformation","classifications":[147,198]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22729224[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":170.0,"area":"Worldwide","status":"Validated","source":"15712320[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","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:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null}]}}