{"orpha":65743,"name":"Autosomal dominant multiple pterygium syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal arthrogryposis type 8"],"definition":"A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65743/","orphanet_url":"https://www.orpha.net/en/disease/detail/65743","names":{"fr":{"name":"Syndrome des ptérygiums multiples autosomique dominant","synonyms":["Arthrogrypose distale type 8"],"definition":"Arthrogrypose distale rare caractérisée par des ptérygiums multiples (affectant généralement le cou, les aisselles et les régions poplitées), des contractures articulaires, un ptosis, une camptodactylie affectant les mains et une hypoplasie des plis de flexion, des fusions vertébrales, une scoliose sévère et une petite taille."},"de":{"name":"Multiples Pterygium-Syndrom, autosomal-dominantes","synonyms":["Arthrogrypose, distale, Typ 8"]},"es":{"name":"Síndrome de pterigium múltiple autosómico dominante","definition":"Es un síndrome de artrogriposis distal poco frecuente caracterizado por pterigium múltiples (que afectan típicamente al cuello, axila y áreas poplíteas), contracturas articulares, ptosis, camptodactilia de las manos con pliegues de flexión hipoplásicos, fusiones vertebrales, escoliosis grave y talla baja."},"it":{"name":"Sindrome da pterigi multipli autosomica dominante","synonyms":["Artrogriposi distale, tipo 8"],"definition":"La sindrome da pterigi multipli autosomica dominante è un'artrogriposi distale rara, caratterizzata da pterigi multipli (di solito localizzati al collo, alle ascelle e nella regione poplitea), contratture articolari, ptosi, camptodattilia delle mani con ipoplasia delle pieghe di flessione, fusioni vertebrali, scoliosi grave e bassa statura."},"nl":{"name":"Autosomaal dominant meervoudig pterygium-syndroom","synonyms":["Distale artrogrypose type 8"],"definition":"Een zeldzaam distale artrogryposesyndroom, gekarakteriseerd door meervoudige pterygia (doorgaans aan hals/nek, oksels en popliteale gebieden), gewrichtscontracturen, ptose, camptodactylie van handen met hypoplastische flexieplooien, fusie van wervels, ernstige scoliose en kleine gestalte."},"pt":{"name":"Síndrome de pterígio múltiplo autossómica dominante","synonyms":["Artrogripose distal tipo 8"]},"pl":{"name":"Autosomalny dominujący zespół mnogich płetwistości","synonyms":["Artrogrypoza dystalna typu 8"],"definition":"*Autosomalny dominujący zespół mnogich płetwistości to rzadka dystalna artrogrypoza, która charakteryzuje się mnogimi płetwistościami (zwykle obejmującymi szyję, doły pachowe i podkolanowe), przykurczami stawów, opadaniem powiek, kamptodaktylią dłoni z hipoplastycznymi bruzdami zgięciowymi, zrostami kręgów, ciężką skoliozą i niskim wzrostem."},"cs":{"name":"Autozomálně dominantní syndrom mnohočetných pterygií","synonyms":["Distální artrogrypóza, typ 8"]},"uk":{"name":"Аутосомно-домінантний синдром множинних птеригіумів","synonyms":["Дистальний артрогрипоз, тип 8"],"definition":"A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature."},"zh":{"name":"常染色体显性多发性翼状胬肉综合征","synonyms":["远端关节挛缩8型"]},"tr":{"name":"Otozomal dominant çoklu piterjiyum sendromu","synonyms":["Distal artrogripozis tip 8"]}},"xrefs":[{"source":"OMIM","code":"178110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2133217461"},{"source":"MONDO","code":"0008338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867440","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":294060,"name":"Multiple pterygium syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"MYH3","name":"myosin heavy chain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25957469[PMID]","hgnc":"7573","ensembl":"ENSG00000109063","omim":"160720","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2831369[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}