{"orpha":294016,"name":"Microcephaly-capillary malformation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MIC-CAP syndrome","MIC-CM syndrome","Microcephaly-cutaneous capillary malformation syndrome"],"definition":"Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294016/","orphanet_url":"https://www.orpha.net/en/disease/detail/294016","names":{"fr":{"name":"Syndrome de microcéphalie-malformation capillaire","synonyms":["Syndrome MIC-CAP","Syndrome MIC-CM","Syndrome de microcéphalie-malformation capillaire cutanée"],"definition":"Anomalie vasculaire génétique rare caractérisée par une microcéphalie congénitale sévère, un faible développement somatique, des malformations capillaires multiples et diffuses sur la peau, une épilepsie réfractaire, un retard de développement global profond, une quadriparésie spastique et une hypoplasie de phalanges distales."},"de":{"name":"Mikrozephalie-kapilläre Fehlbildung-Syndrom","synonyms":["MIC-CAP-Syndrom"]},"es":{"name":"Síndrome de microcefalia-malformación capilar","synonyms":["Sindrome MIC-CAP","Síndrome MIC-CM","Síndrome de microcefalia-malformación capilar cutánea"],"definition":"Es una anomalía vascular genética, poco frecuente, caracterizada por microcefalia congénita grave, deficiente crecimiento somático, múltiples malformaciones capilares cutáneas difusas, epilepsia intratable, profundo retraso global del desarrollo, cuadriparesia espástica y falanges distales hipoplásicas."},"it":{"name":"Sindrome microcefalia e malformazioni capillari","synonyms":["Sindrome MIC-CAP","Sindrome MIC-CM","Sindrome microcefalia-malformazione capillare cutanea"],"definition":"La sindrome che associa la microcefalia alle malformazioni capillari è un'anomalia vascolare genetica rara, caratterizzata da grave microcefalia congenita, scarsa crescita somatica, malformazioni capillari multiple diffuse sulla cute, epilessia non trattabile, marcato ritardo dello sviluppo globale, tetraparesi spastica ed ipoplasia delle falangi distali."},"nl":{"name":"Microcefalie - capillaire malformatie-syndroom","synonyms":["MIC-CAP-syndroom","MIC-CM-syndroom","Microcefalie - cutane capillaire malformatie-syndroom"],"definition":"Microcefalie - capillaire malformatie-syndroom is een zeldzame, genetische vasculaire anomalie die gekarakteriseerd wordt door ernstige congenitale microcefalie, ondermaatse somatische groei, diffuse multipele capillaire malformaties op de huid, onbehandelbare epilepsie, vergaande algehele ontwikkelingsachterstand, spastische quadriparese en hypoplastische distale falangen."},"pt":{"name":"Síndrome microcefalia - malformação capilar","synonyms":["Síndrome MIC-CM","Síndrome microcefalia - malformação capilar cutânea"]},"pl":{"name":"Zespół małogłowie-malformacje naczyń włosowatych","synonyms":["Zespół małogłowie-malformacje naczyń włosowatych w skórze","Zespół MIC-CAP","Zespół MIC-CM"],"definition":"*Zespół małogłowie-malformacje naczyń włosowatych jest rzadką, genetycznie uwarunkowaną wadą naczyniową, która charakteryzuje się ciężkim wrodzonym małogłowiem, słabym wzrastaniem, rozlanymi mnogimi wadami naczyń włosowatych skóry, oporną na leczenie padaczką, głębokim całościowym opóźnieniem rozwoju, spastycznym niedowładem czterokończynowym i hipoplazją paliczków dalszych."},"cs":{"name":"Syndrom zahrnující mikrocefalii a kapilární malformace","synonyms":["MIC-CAP syndrom","MIC-CM syndrom","Syndrom zahrnující mikrocefalii a malformace kožních kapilár"]},"uk":{"name":"Синдром мікроцефалії-капілярної мальформації","synonyms":["Синдром MIC-CAP","Синдром MIC-CM","Синдром мікроцефалії - шкірно-капілярної мальформації"],"definition":"Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges."},"zh":{"name":"小头畸形-毛细血管畸形综合征","synonyms":["小头畸形-皮肤毛细血管畸形综合征"],"definition":"小头畸形-毛细血管畸形综合征是一种罕见的遗传性血管异常，其特征是重度先天性小头畸形、躯体发育不良、皮肤弥漫性多发性毛细血管畸形、顽固性癫痫、极重度全面发育迟缓、痉挛性四肢瘫和末节指骨发育不良。"},"tr":{"name":"Mikrosefali-kapiller malformasyon sendromu","synonyms":["MIC-CM sendromu","MIC-CAP sendromu","Mikrosefali-kutanöz kapiller malformasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"614261","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.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1394629828"},{"source":"MONDO","code":"0013659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280296","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":723264,"name":"Syndromic port-wine capillary malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"STAMBP","name":"STAM binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23542699[PMID]","hgnc":"16950","ensembl":"ENSG00000124356","omim":"606247","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"23542699[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}