{"orpha":284979,"name":"Neonatal Marfan syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neonatal MFS"],"definition":"Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284979/","orphanet_url":"https://www.orpha.net/en/disease/detail/284979","names":{"fr":{"name":"Syndrome de Marfan néonatal","synonyms":["MFS néonatal"],"definition":"Une maladie génétique rare, sévère, mettant en jeu le pronostic vital et survenant pendant la période néonatale. Elle se caractérise par les manifestations classiques du syndrome de Marfan, associées à une dysmorphie faciale (mégalocornée, iridodonésis, ectopie du cristallin, oreilles fripées, peau relâchée et redondante donnant un apparence « sénile » au visage), des contractures articulaires de flexion, un emphysème pulmonaire, et une maladie cardiovasculaire sévère, progressant rapidement (incluant une dilatation de l'aorte ascendante et une insuffisance sévère des valves mitrale et/ou tricuspide). Des manifestations squelettiques (arachnodactylie, dolichosténomélie, malformations thoraciques) sont aussi associées."},"de":{"name":"Marfan-Syndrom, neonatales","synonyms":["Neonatales MFS"],"definition":"Das neonatale Marfan-Syndrom ist eine seltene, schwere und lebensbedrohliche genetische Erkrankung, die während der Neugeborenenperiode auftritt und durch klassische Manifestationen des Marfan-Syndroms gekennzeichnet ist. Zu den charakteristischen Kennzeichen zählen Gesichtsdysmorphie (Megalokornea, Iridodonesis, Ectopia lentis, Knautschohren, lose überflüssige Haut, die ein \"seniles\" Gesichtsaussehen ergibt), Flexionsgelenkkontrakturen, Lungenemphysem und eine schwere, schnell fortschreitende kardiovaskuläre Erkrankung (einschließlich aufsteigender Aortendilatation und schwerer Mitral- und/oder Trikuspidalklappeninsuffizienz). Zusätzlich sind auch skelettale Manifestationen (Arachnodaktylie, Dolichostenomelie, Pektusdeformitäten) assoziiert."},"es":{"name":"Síndrome de Marfan neonatal","synonyms":["MFS neonatal"],"definition":"El síndrome de Marfan neonatal es una enfermedad genética poco frecuente, grave y potencialmente mortal, que se presenta durante el período neonatal y se caracteriza por las manifestaciones del síndrome de Marfan clásico, además de dismorfia facial (megalocórnea, iridodonesis, ectopia lentis, orejas arrugadas, exceso de piel flácida que da apariencia facial senil), contracturas de las articulaciones en flexión, enfisema pulmonar y una enfermedad cardiovascular grave y rápidamente progresiva (incluyendo la dilatación de la aorta ascendente y la insuficiencia valvular mitral y/o tricuspídea grave). También están asociadas manifestaciones esqueléticas (aracnodactilia, dolicostenomelia, malformaciones torácicas)."},"it":{"name":"Sindrome di Marfan neonatale","synonyms":["MFS neonatale"],"definition":"La sindrome di Marfan neonatale è una malattia genetica rara, grave e potenzialmente letale, ad esordio neonatale. È caratterizzata dai segni clinici caratteristici della sindrome di Marfan, ai quali si associano dismorfismi facciali (megalocornea, iridodonesi, dislocazione del cristallino, orecchie stropicciate, cute flaccida ridondante che conferisce al viso un aspetto vecchieggiante), contratture articolari in flessione, enfisema polmonare e cardiopatia grave a progressione rapida (dilatazione dell'aorta ascendente e grave insufficienza della valvola mitrale e/o tricuspide). Si associano inoltre malformazioni scheletriche (aracnodattilia, dolicostenomelia e deformità del torace)."},"nl":{"name":"Neonataal syndroom van Marfan","synonyms":["Neonataal MFS"],"definition":"Neonataal syndroom van Marfan is een zeldzame, ernstige en levensbedreigende genetische ziekte, die voorkomt tijdens de neonatale periode, en die gekarakteriseerd wordt door klassieke manifestaties van syndroom van Marfan met bijkomend faciale dysmorfie (megalocornea, iridodonesis, ectopia lentis, verfrommelde oren, losse overtollige huid die het gelaat een seniel uiterlijk geeft), flexiecontracturen van gewrichten, pulmonaal emfyseem, en een ernstige, snel progressieve cardiovasculaire ziekte (waaronder dilatatie van de stijgende aorta en ernstige insufficiëntie van de mitralis- en/of tricuspidalisklep). Bijkomend zijn ook skeletale manifestaties (arachnodactylie, dolichostenomelie, pectus-misvormingen) geassocieerd."},"pt":{"name":"Síndrome de Marfan neonatal"},"pl":{"name":"Zespół Marfana noworodków","synonyms":["Noworodkowy MFS"]},"cs":{"name":"Neonatální Marfanův syndrom","synonyms":["Neonatální MFS"]},"uk":{"name":"Синдром Марфана у новонароджених","synonyms":["Неонатальна MFS"],"definition":"Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated."},"zh":{"name":"新生儿马凡综合征","synonyms":["新生儿MFS"],"definition":"新生儿马凡综合征是一种罕见的、严重的、危及生命的遗传性疾病，在新生儿期起病，除面部畸形外，还有典型的马凡综合征表现（巨角膜、虹膜震颤、晶状体异位、皱耳、赘肉松动而呈现早老性面容），关节屈曲挛缩、肺气肿和严重的、进程迅速的心血管疾病（包括升主动脉扩张和严重的二尖瓣和/或三尖瓣关闭不全）。此外，也有骨骼表现（蜘蛛脚样指(趾)、细长指(趾)、胸廓畸形）。"},"tr":{"name":"Yenidoğan Marfan sendromu","synonyms":["Yenidoğan MFS"]}},"xrefs":[{"source":"ICD-10","code":"Q87.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1102890898"},{"source":"MONDO","code":"0017309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4016054","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20132243[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-23","source":"16222685[PMID]_17366579[PMID]_20455198[PMID]_15770129[PMID]","terms":[{"hpo":"HP:0002097","label":"Emphysema","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001713","label":"Abnormal cardiac ventricle morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100693","label":"Iridodonesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008124","label":"Talipes calcaneovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009901","label":"Crumpled ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012771","label":"Increased arm span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}