{"orpha":329332,"name":"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome"],"definition":"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329332/","orphanet_url":"https://www.orpha.net/en/disease/detail/329332","names":{"fr":{"name":"Syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque","definition":"Un syndrome génétique, rare et dysmorphique/d'anomalies congénitales caractérisé par un retard de croissance, un retard de développement général, un déficit intellectuel profond, un comportement autistique et un bloc cardiaque acquis de second degré avec une bradycardie et une instabilité vasomotrice. Les mains et les pieds présentent de longs doigts fusiformes, une campto-clinodactylie et des orteils resserrés. La dysmorphie craniofaciale inclut une microcéphalie, un front large, des sourcils fins, des fentes palpébrales obliques en haut et en dehors, de larges oreilles avec un anthélix proéminent, un nez proéminent, un long philtrum, un fin vermillon au niveau de la lèvre supérieure et une lèvre inférieure proéminente. Les signes neurologiques incluent une hypotonie, des réflexes brusques, des mouvements dystoniques et une ataxie troncale. L'imagerie révèle une hypoplasie cérébelleuse et un schéma simplifié des gyri."},"de":{"name":"Mikrozephalie-zerebelläre Hypoplasie-kardiale Reizleitungsstörung-Syndrom","definition":"Ein seltenes, genetisch bedingtes Dysmorphie-Syndrom mit kongenitalen Anomalien, das gekennzeichnet ist durch Wachstumsstörungen, globale Entwicklungsverzögerung, tiefgreifende Intelligenzminderung, autistisches Verhalten, erworbenen Herzblock zweiten Grades mit Bradykardie und vasomotorische Instabilität. Hände und Füße weisen lange fusiforme Finger, Kampto-Klinodaktylie und gedrungene Zehen auf. Die Patienten zeigen ebenfalls kraniofaziale Dysmorphien (Mikrozephalie, eine breite Stirn, dünne Augenbrauen, aufsteigende Lidachsen, große Ohren mit hervorstehender Antihelix, eine hervorstehende Nase, ein langes Philtrum, dünnen Oberlippenrand und eine hervorstehende Unterlippe). Zu den neurologischen Anzeichen gehören Hypotonie, lebhafte Reflexe, dystonieähnliche Bewegungen und Stammataxie, in der Bildgebung zeigt sich eine Kleinhirnhypoplasie und ein vereinfachtes Gyralmuster."},"es":{"name":"Síndrome de microcefalia-hipoplasia cerebelosa-trastorno de la conducción cardíaca","synonyms":["Síndrome de microcefalia-hipoplasia cerebelosa-trastorno de la conducción cardíaca congénita"],"definition":"El síndrome de microcefalia - hipoplasia cerebelosa - trastorno de la conducción cardíaca es un síndrome dismórfico de anomalías congénitas, genético y poco frecuente, caracterizado por fallo del crecimiento y retraso global del desarrollo, discapacidad intelectual profunda, comportamiento autista, bloqueo cardíaco adquirido de segundo grado con bradicardia e inestabilidad vasomotora. Las manos y los pies presentan dedos largos y fusiformes, campto-clinodactilia en las manos y dedos de los pies montados. La dismorfia craneofacial incluye microcefalia, frente ancha, cejas finas, fisuras palpebrales inclinadas hacia arriba, orejas grandes con antihelix prominente, nariz prominente, surco nasolabial largo, bermellón del labio superior delgado y labio inferior prominente. Los signos neurológicos incluyen hipotonía, reflejos enérgicos, movimientos distónicos y ataxia troncal. La RM muestra hipoplasia cerebelosa y un patrón giral simplificado."},"it":{"name":"Sindrome da microcefalia-ipoplasia cerebellare-difetto della conduzione cardiaca","definition":"La sindrome da microcefalia, ipoplasia cerebellare e difetto della conduzione cardiaca è una malattia genetica rara da anomalie congenite/dismorfismi. È caratterizzata da ritardo della crescita e dello sviluppo globale, disabilità intellettiva profonda, comportamenti autistici, blocco cardiaco acquisto di secondo grado, associato a bradicardia e instabilità vasomotoria. I pazienti presentano dita delle mani e dei piedi allungate, di aspetto fusiforme, campto/clinodattilia e affollamento delle dita dei piedi. I dismorfismi facciali comprendono la microcefalia, la fronte ampia, le sopracciglia sottili, le rime palpebrali oblique verso l'alto, le orecchie grandi con antielice prominente, l'allungamento del filtro, l'assottigliamento della porzione mucosa del labbro superiore e la prominenza del labbro inferiore. I sintomi neurologici comprendono l'ipotonia, la velocizzazione dei riflessi, i movimenti simil-distonici e l'atassia del tronco. La diagnostica per immagini evidenzia ipoplasia cerebellare e una riduzione della girazione corticale."},"nl":{"name":"Microcefalie - hypoplasie van cerebellum - hartgeleidingsstoornis-syndroom","synonyms":["Microcefalie - cerebellaire hypoplasie - congenitale hartgeleidingsstoornis-syndroom"],"definition":"Microcefalie - cerebellaire hypoplasie - hartgeleidingsdefect-syndroom is een zeldzaam, genetisch syndroom met congenitale anomalieën/dysmorfie, gekarakteriseerd door groeifalen, globale ontwikkelingsachterstand, ernstige intellectuele achterstand, autistische gedragingen, verworven tweedegraads hartblok met bradycardie en vasomotorische instabiliteit. Handen en voeten vertonen lange fusiforme vingers/tenen, campto-/clinodactylie en overlappende tenen, terwijl craniofaciale dysmorfie bestaat uit onder meer microcefalie, breed voorhoofd, dunne wenkbrauwen, opwaartse ooglidspleten, grote oren met uitgesproken antihelix, uitgesproken neus, lang filtrum, dun vermiljoen aan de boven lip en uitgesproken onderlip. Neurologische tekenen omvatten hypotonie, snelle reflexen, dystonie-achtige bewegingen en truncale ataxie, en beeldvorming toont cerebellaire hypoplasie en een vereenvoudigd gyraal patroon."},"pt":{"name":"Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução","synonyms":["Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução congénito"]},"pl":{"name":"Zespół mikrocefalia-hipoplazja móżdżku-zaburzenia przewodzenia w sercu","synonyms":["Zespół mikrocefalia-hipoplazja móżdżku-wrodzone zaburzenia przewodzenia w sercu"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, hypoplázii mozečku a poruchu srdečního vedení","synonyms":["Syndrom zahrnující mikrocefalii, hypoplázii mozečku a vrozenou poruchu srdečního vedení"]},"uk":{"name":"Синдром мікроцефалії - гіпоплазії мозочка - вади серцевої провідності","synonyms":["Синдром мікроцефалії - гіпоплазії мозочка - вродженої вади серцевої провідності"],"definition":"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern."},"zh":{"name":"小头畸形-小脑发育不全-心脏传导缺损综合征","synonyms":["小头畸形-小脑发育不全-先天性心脏传导缺陷综合征"],"definition":"小头畸形-小脑发育不良-心脏传导缺陷综合征是一种罕见的遗传性先天性异常/畸形综合征，其特征是生长障碍、整体发育迟缓、严重智力障碍、自闭症行为、获得性二级心脏传导阻滞伴心动过缓和血管舒缩不稳。手和脚呈长梭形手指，先天性指屈曲/弯指畸形，脚趾拥挤，而颅面畸形包括小头、前额宽、眉毛细、睑裂上斜、耳大伴对耳轮突出、鼻子突出、长人中、薄上唇和下唇突出。神经系统症状包括张力减退、反射亢进、肌张力障碍样运动和躯干共济失调，影像学显示小脑发育不全和脑回形态简化。"},"tr":{"name":"Mikrosefali-serebellar hipoplazi-kardiyak iletim bozukluğu sendromu","synonyms":["Mikrosefali-serebellar hipoplazi-doğumsal kalp iletim defekti sendromu"]}},"xrefs":[{"source":"OMIM","code":"614407","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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":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":4.0,"area":"Worldwide","status":"Validated","source":"22002884[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}