{"orpha":294060,"name":"Multiple pterygium syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294060/","orphanet_url":"https://www.orpha.net/en/disease/detail/294060","names":{"fr":{"name":"Syndrome des ptérygium multiples","definition":"Groupe de maladies génétiques rares caractérisé par la présence de contractures articulaires et de multiples réseaux de tissus mous (ptérygion) au niveau du cou et de diverses articulations, ainsi que par un faciès typique et une variété d'autres malformations congénitales. Il existe des formes létales (syndrome du ptérygion multiple létal et lié à l'X) et non létales (syndrome du ptérygion multiple autosomique récessif et autosomique dominant)."},"de":{"name":"Multiples Pterygium-Syndrom","definition":"Eine Gruppe seltener genetischer Erkrankungen, die durch das Vorhandensein von Gelenkkontrakturen und multiplen Weichteilstegen (Pterygium) am Hals und an verschiedenen Gelenken sowie durch ein typisches Gesichtsbild und eine Reihe anderer angeborener Anomalien gekennzeichnet sind. Es gibt tödlich verlaufende Formen (fatales und X-chromosomal letales multiples Pterygium-Syndrom) und nicht tödlich verlaufende Formen (autosomal-rezessives und autosomal-dominantes multiples Pterygium-Syndrom)."},"es":{"name":"Síndrome de pterigium múltiple","definition":"Es un grupo de trastornos de base genética poco frecuente caracterizado por la presencia de contracturas articulares y múltiples pliegues de tejidos blandos (pterigion) en la región cervical y en varias articulaciones, así como una apariencia facial característica y una variedad de otras anomalías congénitas. Incluye tanto formas letales (síndrome de pterigión múltiple letal y síndrome de pterigión múltiple letal ligado al cromosoma X) como no letales (síndrome de pterigión múltiple autosómico recesivo y autosómico dominante)."},"it":{"name":"Sindrome degli pterigi multipli","definition":"Si tratta di un gruppo di malattie genetiche rare caratterizzate da contratture articolari, pliche dei tessuti molli (pterigi) a livello del collo e di diverse articolazioni, facies caratteristica e altre anomalie congenite. Esistono forme letali (sindrome da pterigi multipli letale e legata all'X) e non letali (sindrome da pterigi multipli autosomica recessiva e autosomica dominante)."},"nl":{"name":"Meervoudig pterygium-syndroom","definition":"Een groep van zeldzame, genetische aandoeningen, gekarakteriseerd door aanwezigheid van gewrichtscontracturen en multipele pterygia van weke delen over nek en verschillende gewrichten, alsook een typisch voorkomen van aangezicht en een verscheidenheid aan andere congenitale anomalieën. Zowel letale (letaal en X-gebonden letaal multipele pterygium-syndroom) als niet-letale (autosomaal recessief en autosomaal dominant multipele pterygium-syndroom) vormen komen voor."},"pt":{"name":"Síndrome de pterígio múltiplo"},"pl":{"name":"Zespół mnogich płetwistości"},"cs":{"name":"Syndrom mnohočetných pterygií"},"uk":{"name":"Синдром множинних птеригіумів","definition":"A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur."},"zh":{"name":"多发性翼状胬肉综合征"},"tr":{"name":"Çoklu piterjiyum sendromu"}},"xrefs":[{"source":"ICD-11","code":"LD26.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"834369371"},{"source":"MONDO","code":"0017415","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17415","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537377","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":109007,"name":"Arthrogryposis syndrome","classifications":[147]},{"orpha":723416,"name":"Genetic arthrogryposis syndrome","classifications":[156]}],"children":[{"orpha":65743,"name":"Autosomal dominant multiple pterygium syndrome","type":"Malformation syndrome"},{"orpha":2990,"name":"Autosomal recessive multiple pterygium syndrome","type":"Malformation syndrome"},{"orpha":33108,"name":"Lethal multiple pterygium syndrome","type":"Malformation syndrome"},{"orpha":79447,"name":"X-linked lethal multiple pterygium syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}