{"orpha":90350,"name":"Autosomal recessive cutis laxa type 2","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["ARCL2","Cutis laxa with joint laxity and developmental delay"],"definition":"A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90350/","orphanet_url":"https://www.orpha.net/en/disease/detail/90350","names":{"fr":{"name":"Cutis laxa autosomique récessive type 2","synonyms":["ARCL2","Syndrome de cutis laxa-hyperlaxité ligamentaire-retard de développement"],"definition":"Le cutis laxa autosomique récessif de type 2 (ARCL2) constitue un spectre de maladies du tissu conjonctif caractérisées par l'association d'une peau inélastique, ridée, redondante et plissée, d'un retard de développement et de croissance et des anomalies squelettiques. Le spectre s'étend des patients présentant une ARCL2 classique (ARCL type Debré) à d'autres ayant une forme plus légère de la maladie, appelé syndrome de la peau ridée (SPR)."},"de":{"name":"Cutis laxa, autosomal-rezessive, Typ 2","synonyms":["ARCL2","Cutis laxa - Gelenkinstabilität - Entwicklungsverzögerung"],"definition":"Der Typ 2 der autosomal-rezessiven Cutis laxa (ARCL2) repräsentiert vermutlich ein Spektrum von Erkrankungen des Bindegewebes, die durch die Assoziation von runzliger, überschüssiger, herabhängender, unelastischer Haut, verzögerter Entwicklung und Skelettanomalien gekennzeichnet sind. Das Spektrum reicht von Patienten mit klassischer ARCL2, dem Typ Debré der ARCL, bis zu Patienten mit einer milderen Form der Krankheit, dem Wrinkly-skin-Syndrom (WSS; s. dort)."},"es":{"name":"Cutis laxa autosómica recesiva tipo 2","synonyms":["ARCL2","Cutis laxa con laxitud articular y retraso del desarrollo"],"definition":"Es un espectro de trastornos del tejido conectivo caracterizados por la asociación de piel arrugada, inelástica, flácida y redundante con un retraso en el crecimiento y el desarrollo, así como por anomalías esqueléticas. El espectro abarca desde pacientes con el clásico ARCL2 (ARCL, tipo Debré) hasta pacientes con una forma leve de la enfermedad, el síndrome de la piel arrugada (WSS; por sus siglas en inglés)."},"it":{"name":"Cutis laxa autosomica recessiva, tipo 2","synonyms":["ARCL2","Cutis laxa con lassità articolare e ritardo dello sviluppo"]},"nl":{"name":"Autosomaal recessieve cutis laxa type 2","synonyms":["ARCL2","Cutis laxa met gewrichtslaxiteit en ontwikkelingsachterstand"],"definition":"Een spectrum van aandoeningen van bindweefsel, gekenmerkt door de associatie van gerimpelde, overtollige en hangende, inelastische huid met groei- en ontwikkelingsachterstand, en skeletanomalieën. Het spectrum gaat van patiënten met klassieke autosomaal recessieve cutis laxa type 2 (ARCL2, Debré-type) tot patiënten met een mildere vorm van de ziekte, met name rimpelige huid-syndroom (WSS)."},"pt":{"name":"Cutis laxa autossómica recessiva tipo 2","definition":"A cutis laxa autossómica recessiva tipo 2 (ARCL2) é um espectro de doenças do tecido conjuntivo caracterizado pela associação de pele enrugada, redundante, flácida e inelástica, com atraso no crescimento e desenvolvimento e anomalias esqueléticas. O espectro varia desde doentes com cutis laxa autossómica recessiva tipo 2 clássica (ARCL2, tipo Debré) até doentes com uma forma mais ligeira da doença, a síndrome da pele enrugada (WSS)."},"pl":{"name":"Autosomalna recesywna skóra wiotka typu 2","synonyms":["ARCL2","Skóra wiotka z luźnością w stawach i opóźnieniem w rozwoju"]},"cs":{"name":"Autozomálně recesivní cutis laxa, typ 2","synonyms":["ARCL2","Cutis laxa se zvýšenou volností kloubů a opožděním vývoje"]},"uk":{"name":"Аутосомно-рецесивний синдром cutis laxa, тип 2","synonyms":["ARCL2","Cutis laxa з вялістю суглобів та затримкою розвитку"],"definition":"A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS)."},"zh":{"name":"常染色体隐性遗传皮肤松弛症2型","synonyms":["皮肤松弛症伴发关节松弛和发育延迟"]},"tr":{"name":"Otozomal resesif kutis laksa tip 2","synonyms":["ARCL2","Eklem gevşekliği ve gelişme geriliği ile seyreden kutis laksa"]}},"xrefs":[{"source":"MONDO","code":"0019573","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432337","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":289866,"name":"Disorder of proline metabolism","classifications":[150,156]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","type":"Disease"},{"orpha":357064,"name":"Autosomal recessive cutis laxa type 2B","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}