{"orpha":357064,"name":"Autosomal recessive cutis laxa type 2B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARCL2, progeroid type","ARCL2B","Autosomal recessive cutis laxa type 2, progeroid type"],"definition":"A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357064/","orphanet_url":"https://www.orpha.net/en/disease/detail/357064","names":{"fr":{"name":"Cutis laxa autosomique récessive type 2B","synonyms":["ARCL2 type progéroïde","ARCL2B","Cutis laxa autosomique récessive type 2 progéroïde"],"definition":"Anomalie rare et héréditaire du développement avec anomalies du tissu conjonctif caractérisée par une cutis laxa de sévérité variable, un retard de croissance in utero, une luxation congénitale de la hanche et une hyperlaxité des articulations, une peau ridée, en particulier du dos des mains et des pieds, et des traits faciaux progéroïdes. Une hypotonie, un retard de développement et une déficience intellectuelle sont fréquents. En outre, des cas de cataracte, d'opacification de la cornée, d'os wormiens, de lipodystrophie et d'ostéopénie ont été rapportés."},"de":{"name":"Cutis laxa, autosomal-rezessive, Typ 2B","synonyms":["ARCL2, progeroider Typ","ARCL2B","Cutis laxa, autosomal-rezessive, Typ 2, progeroide"]},"es":{"name":"Cutis laxa autosómica recesiva tipo 2B","synonyms":["ARCL2 tipo progeroide","ARCL2B","Cutis laxa autosómica recesiva tipo 2, tipo progeroide"],"definition":"Es un defecto del desarrollo, hereditario y poco frecuente, con afectación del tejido conectivo, caracterizado por una gravedad variable de cutis laxa, con restricción del crecimiento <i>in utero</i>, luxación congénita de cadera e hiperlaxitud articular, piel arrugada, en particular en el dorso de las manos y pies, y rasgos faciales progeroides. Otras características comunes son hipotonía, retraso del desarrollo y discapacidad intelectual. Además, se han descrito cataratas, opacidad corneal, huesos wormianos, lipodistrofia y osteopenia."},"it":{"name":"Cutis laxa autosomica recessiva, tipo 2B","synonyms":["ARCL2, tipo progeroide","ARCL2B","Cutis laxa autosomica recessiva tipo 2, tipo progeroide"],"definition":"La cutis laxa autosomica recessiva tipo 2B è un difetto ereditario raro dello sviluppo, che interessa il tessuto connettivo, caratterizzato da cutis laxa di gravità variabile, ritardo della crescita prenatale, lussazione congenita dell'anca, iperlassità articolare, cute rugosa, in particolare sul dorso delle mani e dei piedi, e tratti del viso progeroidi. Sono comuni l'ipotonia, il ritardo dello sviluppo e la disabilità intellettiva. I pazienti possono presentare anche la cataratta, opacità corneali, ossa wormiane, lipodistrofia ed osteopenia."},"nl":{"name":"Autosomaal recessieve cutis laxa type 2B","synonyms":["ARCL2, progeroïd type","ARCL2B","Autosomaal recessieve cutis laxa type 2, progeroïd type"],"definition":"Een zeldzaam, erfelijk ontwikkelingsdefect met betrokkenheid van bindweefsel, gekarakteriseerd door cutis laxa met variabele gradaties van ernst, <i>in utero</i> groeirestrictie, congenitale dislocatie van heup en hyperlaxiteit van gewrichten, rimpelen van huid, vooral aan de rug van handen en voeten, en progeroïde gelaatskenmerken. Hypotonie, ontwikkelingsachterstand en intellectuele achterstand komen vaak voor. Daarnaast werden ook cataracten, vertroebeling van hoornvlies, Wormiaanse botstructuren, lipodystrofie en osteopenie gerapporteerd."},"pt":{"name":"Cutis laxa autossómica recessiva tipo 2B"},"pl":{"name":"Autosomalny recesywny zespół luźnej skóry typu 2B","synonyms":["ARCL2, typ progeroidalny","ARCL2B","Autosomalna recesywna luźna skóra typu 2, typ progeroidalny"],"definition":"*Autosomalny recesywny zespół luźnej skóry typu 2B jest rzadką, dziedziczną wadą rozwojową z zajęciem tkanki łącznej, która charakteryzuje się luźną skórą o zróżnicowanym stopniu nasilenia, zahamowaniem wzrastania wewnątrzmacicznego, wrodzonym zwichnięciem stawów biodrowych i nadmierną ruchomością stawów, pomarszczoną skórą, szczególnie grzbietu dłoni i stóp oraz progeroidalnymi rysami twarzy. Często występuje obniżone napięcie mięśniowej, opóźnienie rozwoju i niepełnosprawność intelektualna. Ponadto opisywano występowanie zaćmy, zmętnienia rogówki, kostki szwów czaszki (ang. wormian bones), lipodystrofię i osteopenię."},"cs":{"name":"Autozomálně recesivní cutis laxa, typ 2B","synonyms":["ARCL2, progeroidní typ","ARCL2B","Autozomálně recesivní cutis laxa typ 2, progeroidní typ"]},"uk":{"name":"Аутосомно-рецесивний cutis laxa, тип 2B","synonyms":["ARCL2, прогероїдний тип","ARCL2B","Аутосомно-рецесивна форма cutis laxa, тип 2, прогероїдний тип"],"definition":"A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported."},"zh":{"name":"常染色体隐性皮肤松弛2B型","synonyms":["常染色体隐性遗传性皮肤松弛症2型早老型"],"definition":"本病是一种罕见的遗传性发育缺陷，伴有结缔组织受累，其特征为严重程度不等的皮肤松弛、宫内生长受限、先天性髋关节脱位和关节过度松弛、皮肤(尤其是手背和脚背)皱纹，以及黄斑面部特征。肌张力低下、发育迟缓和智力障碍很常见。此外，白内障、角膜混浊、缝间骨、脂肪营养不良和骨量减少也有被报道。"},"tr":{"name":"Otozomal resesif kutis laksa tip 2B","synonyms":["ARCL2B","ARCL2, progeroid türü","Otozomal çekinik kutis laksa tip 2, progeroid tip"]}},"xrefs":[{"source":"OMIM","code":"612940","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1052317213"},{"source":"MONDO","code":"0013051","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751987","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":90350,"name":"Autosomal recessive cutis laxa type 2","classifications":[147,150,156,182,186,187,199]}],"children":[],"genes":[{"symbol":"PYCR1","name":"pyrroline-5-carboxylate reductase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19576563[PMID]","hgnc":"9721","ensembl":"ENSG00000183010","omim":"179035","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"11424136[PMID]_16045708[PMID]_18304158[PMID]_18348262[PMID]_19576563[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11424136[PMID]_16045708[PMID]_18304158[PMID]_18348262[PMID]_19576563[PMID]_ORPHANET"}],"phenotypes":null}