{"orpha":209,"name":"Cutis laxa","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209/","orphanet_url":"https://www.orpha.net/en/disease/detail/209","names":{"fr":{"name":"Cutis laxa","definition":"La cutis laxa (CL) est une affection héréditaire ou acquise du tissu conjonctif caractérisée par une peau ridée, abondante et qui pend, ayant perdu son élasticité, associée à des anomalies squelettiques, des anomalies du développement et, dans certains cas, à une atteinte systémique sévère. Plusieurs formes différentes de CL ont été décrites et sont distinguées selon le mode de transmission, l'étendue de l'atteinte viscérale, les anomalies associées et la sévérité de la maladie."},"de":{"name":"Cutis laxa","definition":"Die Cutis laxa (CL) ist eine erbliche oder erworbene Erkrankung des Bindegewebes mit runzliger, überschüssiger und hängender unelastischer Haut, mit Skelett- und Entwicklungsanomalien und bei einigen Fällen mit schwerer systemischer Beteiligung."},"es":{"name":"Cutis laxa","definition":"La cutis laxa (CL) es una afectación hereditaria o adquirida del tejido conectivo. Se caracteriza por una piel arrugada, abundante y flácida, que ha perdido su elasticidad, y se asocia con anomalías esqueléticas o del desarrollo y, en algunos casos, con una afectación sistémica grave. Se han descrito numerosas variantes de CL, qu se diferencian según el modo de transmisión hereditario, la extensión de la afectación visceral, las anomalías asociadas y la gravedad de la enfermedad."},"it":{"name":"Cutis laxa"},"nl":{"name":"Cutis laxa","definition":"Een erfelijke of verworven aandoening van bindweefsel, gekenmerkt door gerimpelde, overtollige en hangende niet-elastische huid, geassocieerd met skelet- en ontwikkelingsanomalieën, en in sommige gevallen met ernstige systemische betrokkenheid. Er werden meerdere verschillende vormen van erfelijke cutis laxa (CL) beschreven, die van elkaar worden onderscheiden op basis van manier van overerving en verschillen in de mate van betrokkenheid van inwendige organen, geassocieerde anomalieën en ernst van de ziekte."},"pt":{"name":"Cutis laxa","definition":"A cutis laxa (CL) é uma doença do tecido conjuntivo adquirida ou hereditária caracterizada por pele enrugada redundante e flácida inelástica associada a anomalias esqueléticas e do desenvolvimento e, em alguns casos, com envolvimento sistémico grave."},"pl":{"name":"Skóra wiotka"},"cs":{"name":"Cutis laxa"},"uk":{"name":"Cutis laxa","definition":"Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity."},"zh":{"name":"皮肤松弛症"},"tr":{"name":"Kutis laksa"}},"xrefs":[{"source":"ICD-11","code":"EE41.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1227401566"},{"source":"MONDO","code":"0016175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003483","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010495","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6227","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[{"orpha":3342,"name":"Arterial tortuosity syndrome","type":"Malformation syndrome"},{"orpha":90348,"name":"Autosomal dominant cutis laxa","type":"Disease"},{"orpha":90349,"name":"Autosomal recessive cutis laxa type 1","type":"Disease"},{"orpha":90350,"name":"Autosomal recessive cutis laxa type 2","type":"Clinical group"},{"orpha":363705,"name":"Craniofaciofrontodigital syndrome","type":"Disease"},{"orpha":221145,"name":"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","type":"Malformation syndrome"},{"orpha":2962,"name":"De Barsy syndrome","type":"Disease"},{"orpha":2078,"name":"Geroderma osteodysplastica","type":"Malformation syndrome"},{"orpha":314718,"name":"Lethal arteriopathy syndrome due to fibulin-4 deficiency","type":"Disease"},{"orpha":198,"name":"Occipital horn syndrome","type":"Disease"},{"orpha":217335,"name":"RIN2 syndrome","type":"Malformation syndrome"},{"orpha":3134,"name":"SCARF syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","X-linked recessive"],"onset":[],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}