{"orpha":171719,"name":"Cutis laxa-Marfanoid syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171719/","orphanet_url":"https://www.orpha.net/en/disease/detail/171719","names":{"fr":{"name":"Syndrome cutis laxa-marfanoïde","definition":"Syndrome d'anomalie rare du développement avec anomalies du tissu conjonctif, caractérisé par une cutis laxa néonatale, un habitus marfanoïde avec arachnodactylie, un emphysème pulmonaire, des anomalies cardiaques et une hernie de coupole diaphragmatique. Des contractures légères des coudes, des hanches et des genoux, avec une luxation bilatérale de la hanche peuvent également être associées. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Cutis laxa-marfanoides Syndrom","definition":"Ein seltener, genetischer Entwicklungsdefekt mit Bindegewebsbeteiligung, der durch neonatale Cutis Laxa, marfanoiden Habitus mit Arachnodaktylie, Lungenemphysem, Herzanomalien und Zwerchfellbruch gekennzeichnet ist. Leichte Kontrakturen der Ellbogen, Hüften und Knie mit beidseitiger Hüftluxation können ebenfalls auftreten. Seit 1991 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome marfanoide-cutis laxa","definition":"Es un síndrome por defectos del desarrollo con afectación del tejido conectivo de origen genético y poco frecuente caracterizado por cutis laxa neonatal, hábito marfanoide con aracnodactilia, enfisema pulmonar, anomalías cardíacas y hernia diafragmática. También puede asociar leves contracturas en codos, caderas y rodillas, junto con luxación bilateral de cadera. No ha habido más casos descritos en la literatura desde 1991."},"it":{"name":"Cutix laxa e sindrome marfanoide","definition":"È un difetto genetico raro dello sviluppo, che coinvolge il tessuto connettivo, caratterizzato da cutis laxa neonatale, habitus marfanoide con aracnodattilia, enfisema polmonare, cardiopatie ed ernia diaframmatica. Può associarsi a lievi contratture dei gomiti, delle anche e delle ginocchia, con dislocazione bilaterale dell'anca. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Cutis laxa - marfanoïd-syndroom","definition":"Een zeldzaam, genetisch, syndromaal ontwikkelingsdefect met betrokkenheid van bindweefsel, gekarakteriseerd door neonatale cutis laxa, marfanoïde habitus met arachnodactylie, longemfyseem, hartanomalieën, en middenrifbreuk. Milde contracturen van de ellebogen, heupen, en knieën, met bilaterale dislocatie van de heup kunnen ook geassocieerd zijn. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome marfanóide - cutis laxa"},"pl":{"name":"Luźna skóra-zespół marfanoidalny"},"cs":{"name":"Syndrom zahrnující cutis laxa a marfanoidní habitus"},"uk":{"name":"Cutis laxa-Марфаноїдний синдром","definition":"A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991."},"zh":{"name":"皮肤松弛-马凡样综合征","definition":"皮肤松弛症-马方综合征是一种罕见的遗传性发育障碍和结缔组织病，其主要临床表现为新生儿皮肤松弛、肘关节、髋关节、膝关节轻度挛缩，并伴有双侧髋关节脱位，马方综合征表现为蜘蛛指、肺气肿、心脏疾病和膈疝。自1991年以来，文献中没有进一步的描述。"},"tr":{"name":"Kutis laksa-Marfanoid sendromu"}},"xrefs":[{"source":"OMIM","code":"614100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"467492754"},{"source":"MONDO","code":"0013574","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563639","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432335","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1864606[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"1864606[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null}]}}