{"orpha":251515,"name":"Distal arthrogryposis type 10","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short Achilles tendon","Short tendo calcaneus","DA10","Plantar flexion contracture"],"definition":"A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251515/","orphanet_url":"https://www.orpha.net/en/disease/detail/251515","names":{"fr":{"name":"Arthrogrypose distale type 10","synonyms":["Contracture congénitale du tendon calcanéen","Contracture congénitale du tendon d'Achille","DA10"],"definition":"Syndrome d'arthrogrypose distale génétique rare caractérisé par des contractures maintenant le pied en flexion, dont les manifestations typiques sont une marche sur la pointe des pieds pendant la petite enfance associée, de manière inconstante, à de plus légères contractures des articulations de la hanche, du poignet et des doigts. Des anomalies neurologiques ou oculaires sont associées et les taux sériques de créatine phosphokinase sont normaux."},"de":{"name":"Arthrogrypose, distale, Typ 10","synonyms":["Achillessehne, verkürzte","DA10","Plantarflexionkontraktur"],"definition":"Ein genetisch bedingtes, distales Arthrogrypose-Syndrom, das durch Plantarflexionskontrakturen gekennzeichnet ist, die sich typischerweise im Kleinkindalter durch Zehengang äußern und mit milderen Kontrakturen der Hüft-, Ellenbogen-, Hand- und Fingergelenke einhergehen können. Es treten keine okulären oder neurologischen Anomalien auf, und die Serum-Kreatinphosphokinase-Werte sind normal."},"es":{"name":"Artrogriposis distal tipo 10","synonyms":["Contractura en flexión plantar","DA10","Tendón calcáneo corto"],"definition":"Es un tipo de artrogriposis distal, genético y poco frecuente, caracterizado por contracturas en flexión plantar . Típicamente se presenta con marcha de puntillas en la infancia , asociada de forma variable a contracturas de carácter más leve en las articulaciones de la cadera, el codo, la muñeca y los dedos de la mano. No asocia anomalías oculares o neurológicas y los niveles séricos de creatinfosfoquinasa son normales."},"it":{"name":"Artrogriposi distale tipo 10","synonyms":["Contrattura in flessione plantare","DA10","Tendine calcaneale corto"],"definition":"È un'artrogriposi distale genetica rara, caratterizzata da contratture plantari in flessione, che di solito si manifestano con andatura sulla punta dei piedi durante l'infanzia, variabilmente associata a modeste contratture dell'anca, del gomito, del polso e delle articolazioni delle dita delle mani. Non sono presenti anomalie oculari o neurologiche, e i livelli di creatina fosfochinasi nel siero sono normali."},"nl":{"name":"Distale artrogrypose type 10","synonyms":["DA10","Korte tendo calcaneus","Plantaire flexie-contractuur"],"definition":"Een zeldzaam, genetisch, distaal artrogryposesyndroom dat gekarakteriseerd wordt door plantaire flexiecontracturen, wat zich doorgaans presenteert met tenenlopen in de zuigelingentijd, geassocieerd met mildere contracturen van de heup, elleboog, pols en vingergewrichten. Er zijn geen oculaire of neurologische afwijkingen geassocieerd en de gehaltes van creatinefosfokinase in het serum zijn normaal."},"pt":{"name":"Artrogripose distal tipo 10","synonyms":["Contratura da flexão plantar","DA10","Tendão calcâneo curto"]},"pl":{"name":"Artrogrypoza dystalna typu 10","synonyms":["DA10","Krótkie ścięgno Achillesa","Podeszwowy przykurcz"]},"cs":{"name":"Distální artrogrypóza, typ 10","synonyms":["DA10","Kontraktura plantární flexe","Zkrácení Achillovy šlachy","Zkrácení tendo calcaneus"]},"uk":{"name":"Дистальний артрогрипоз, тип 10","synonyms":["DA10","Підошовна згинальна контрактура","Коротке ахіллове сухожилля","Коротке сухожилля пяткової кістки"],"definition":"A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal."},"zh":{"name":"远端关节挛缩症10型","synonyms":["足底屈曲挛缩"],"definition":"一种罕见的遗传性远端关节扭曲综合症，其特征是足底屈曲挛缩，典型的表现为婴儿期的脚趾行走，与髋关节、肘关节、手腕关节和手指关节的轻度挛缩有不同程度的关联。无眼部或神经异常，血清肌酸磷酸激酶水平正常。"},"tr":{"name":"Distal artrogripozis tip 10","synonyms":["DA10","Kısa Aşil tendonu","Kısa tendo kalkaneus","Plantar fleksiyon kontraktürü"]}},"xrefs":[{"source":"OMIM","code":"187370","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016675","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861238","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"17103435[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}