{"orpha":1149,"name":"Kuskokwim syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arthrogryposis-like syndrome","Kuskokwim disease"],"definition":"A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1149/","orphanet_url":"https://www.orpha.net/en/disease/detail/1149","names":{"fr":{"name":"Syndrome de Kuskokwim","synonyms":["Maladie de Kuskokwim","Syndrome arthrogrypose-like"],"definition":"Le syndrome arthrogrypose-like, aussi connu sous le nom de syndrome de Kuskokwim est un trouble congénital très rare lié à des contractures, rapporté exclusivement chez des Esquimaux Yup'ik dans la région du delta de la rivière Kuskokwim, en Alaska. Il est caractérisé par de multiples contractures au niveau des grosses articulations (surtout les genoux et les chevilles) qui se manifestent à la naissance ou pendant l'enfance et persistent tout au long de la vie, des déformations de la colonne vertébrale, du pelvis et des pieds, et parfois, un déplacement proximal ou distal de la rotule et une atrophie musculaire des membres contracturés. Les caractéristiques radiologiques incluent un léger tassement vertébral, une élongation des pédicules vertébraux et des clavicules distales en forme de club. Un mode de transmission autosomique récessif a été suggéré."},"de":{"name":"Kuskokwim-Syndrom","synonyms":["Arthrogrypose-artiges Syndrom","Kuskokwim-Krankheit"],"definition":"Eine sehr seltene angeborene Störung mit Kontrakturen, die ausschließlich bei den Volk der Zentralalaskischen Yup'ik in der Deltaregion des Kuskokwim-Flusses auftritt. Sie ist gekennzeichnet durch multiple Kontrakturen der großen Gelenke (vor allem der Knie und Knöchel), die bei der Geburt oder in der Kindheit auftreten, aber lebenslang bestehen; Deformationen der Wirbelsäule, des Beckens und der Füße; manchmal proximal oder distal verschobene Kniescheiben und Muskelschwund in den Gliedmaßen mit Kontrakturen. Zu den weiteren radiologischen Merkmalen gehören eine leichte Verkeilung der Wirbel, eine Verlängerung des Wirbelfußes und eine Klumpung des distalen Schlüsselbeins. Es wurde ein autosomal-rezessiver Erbgang vermutet."},"es":{"name":"Síndrome de Kuskokwim","synonyms":["Síndrome similar a artrogriposis"],"definition":"Es un trastorno de contracturas congénitas muy infrecuente descrito exclusivamente en los esquimales Yup'ik de la región del delta del río Kuskokwim en Alaska. Está caracterizado por múltiples contracturas de las grandes articulaciones (principalmente de rodillas y tobillos) que aparecen al nacimiento o durante la infancia y se padecen toda la vida; malformaciones de la columna vertebral, pelvis y pies; y, en ocasiones, desplazamiento proximal o distal de la rótula, y atrofia muscular de las extremidades con contracturas. Otras características radiológicas adicionales incluyen un discreto acuñamiento vertebral, elongación del pedículo vertebral y ensanchamiento de la clavícula distal. Se ha sugerido un patrón de herencia autosómico recesivo."},"it":{"name":"Sindrome artrogriposi-simile","synonyms":["Malattia di Kuskokwim"],"definition":"La sindrome simile all'artrogriposi, nota anche come malattia di Kuskokwim, è una malattia congenita da contratture molto rara, descritta solo nella popolazione eschimese di etnia Yup'ik della regione del delta del fiume Kuskokwim, in Alaska. E' caratterizzata da: contratture multiple delle grandi articolazioni (prevalentemente ginocchia e caviglie), che si manifestano alla nascita o durante l'infanzia e persistono per tutta la vita; deformità della colonna vertebrale, del bacino e dei piedi; in alcuni casi, dislocazione prossimale o distale della rotula e atrofia muscolare degli arti contratti. Altri segni radiologici sono l'incuneamento sfumato delle vertebre, l'allungamento del peduncolo vertebrale e l'ippocratismo della clavicola distale. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Syndroom van Kuskokwim","synonyms":["Artrogrypose-achtig syndroom","Ziekte van Kuskokwim"],"definition":"Een zeer zeldzame congenitale aandoening met contracturen die exclusief werd gerapporteerd bij Yup'ik Eskimo's van de Kuskokwim rivierdelta in Alaska, gekarakteriseerd door meervoudige contracturen van grote gewrichten (vooral knieën en enkels) die voorkomen bij de geboorte of tijdens de kindertijd en levenslang blijven; misvormingen van de wervelkolom, het bekken en de voeten; en soms proximaal of distaal verplaatste knieschijven en spieratrofie in de ledematen met contracturen. Bijkomende radiologische kenmerken zijn onder meer wigvormige wervels, langwerpige pedikels, en verbreding van distaal sleutelbeen. Overerving gebeurt vermoedelijk autosomaal recessief."},"pt":{"name":"Síndrome Kuskokwim","synonyms":["Doença artrogripose-like"]},"pl":{"name":"Zespół Kuskokwim","synonyms":["Choroba Kuskokwim"]},"cs":{"name":"Arthrogryposis-like syndrom","synonyms":["Kuskokwimská nemoc"]},"uk":{"name":"Синдром Кускоквима","synonyms":["Артрогрипозний синдром","Хвороба Кускоквим"],"definition":"A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested."},"zh":{"name":"Kuskokwim综合征","synonyms":["关节挛缩样综合征"]},"tr":{"name":"Kuskokwim sendromu","synonyms":["Kuskokwim hastalığı","Artrogripozis benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"259450","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015241","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538124","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859709","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3150","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]}],"children":[],"genes":[{"symbol":"FKBP10","name":"FKBP prolyl isomerase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23712425[PMID]","hgnc":"18169","ensembl":"ENSG00000141756","omim":"607063","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23712425[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23712425[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}