{"orpha":329457,"name":"Distal arthrogryposis type 5D","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal arthrogryposis type 5 without ophthalmoplegia","DA5D","Distal arthrogryposis type 5 without ophthalmoparesis"],"definition":"Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329457/","orphanet_url":"https://www.orpha.net/en/disease/detail/329457","names":{"fr":{"name":"Arthrogrypose distale type 5D","synonyms":["Arthrogrypose distale type 5 sans ophtalmoparésie","Arthrogrypose distale type 5 sans ophtalmoplégie","DA5D"],"definition":"Sous-type rare du syndrome d'arthrogrypose distale caractérisé par une arthrogrypose congénitale multiple affectant les mains, les pieds, les chevilles, les épaules et/ou le cou, avec une camptodactylie des doigts et une extension limitée des genoux et des hanches, associée à un ptosis asymétrique et, plus rarement, à d'autres anomalies oculaires (ophtalmoplégie, strabisme). Les personnes atteintes présentent souvent un nez bulbeux, une langue fissurée, une micro/rétrognathie, un cou court, une luxation congénitale de la hanche, des pieds bots, une scoliose et une petite taille."},"de":{"name":"Arthrogrypose, distale, Typ 5D","synonyms":["DA5D","Distale Arthrogrypose Typ 5 ohne Ophthalmoplegie"]},"es":{"name":"Artrogriposis distal tipo 5D","synonyms":["Artrogriposis distal tipo 5 sin oftalmoparesia","Artrogriposis distal tipo 5 sin oftalmoplejía","DA5D"],"definition":"La artrogriposis distal tipo 5D es un subtipo poco frecuente de síndrome de artrogriposis distal caracterizado por artrogriposis congénita múltiple que afecta a manos, pies, tobillos, hombros y/o cuello, con camptodactilia de los dedos de la mano y extensión limitada de rodilla y cadera. Se asocia también a ptosis asimétrica y, con menor frecuencia, a otras manifestaciones oculares (p. ej. oftalmoplejía, estrabismo). Con frecuencia, los afectados presentan nariz bulbosa, lengua fisurada, micro / retrognacia, cuello corto, luxación congénita de cadera, pie equinovaro, escoliosis y talla baja."},"it":{"name":"Artrogriposi distale, tipo 5D","synonyms":["Artrogriposi distale tipo 5 senza oftalmoparesi","Artrogriposi distale tipo 5 senza oftalmoplegia","DA5D"],"definition":"L'artrogriposi distale tipo 5D è un sottotipo raro di artrogriposi distale, caratterizzato da artrogriposi multipla congenita che interessa le mani, i piedi, le caviglie, le spalle e/o il collo, con camptodattilia delle dita delle mani e una limitazione dell'estensione delle ginocchia e delle anche, associate a ptosi asimmetrica e, più raramente, ad altri segni oculari (ad esempio, l'oftalmoplegia e lo strabismo). I pazienti spesso presentano naso globoso, lingua con solchi, micro/retrognazia, collo corto, lussazione congenita dell'anca, piede equino, scoliosi e bassa statura."},"nl":{"name":"Distale artrogrypose type 5D","synonyms":["DA5D","Distale artrogrypose type 5 zonder oftalmoparese","Distale artrogrypose type 5 zonder oftalmoplegie"],"definition":"Distale artrogrypose type 5D is een zeldzaam subtype van distale artrogryposesyndroom, en wordt gekarakteriseerd door arthrogryposis multiplex congenita die de handen, voeten, enkels, schouders en/of hals/nek treft, met camptodactylie van de vingers en beperkte extensie van knie en heup, geassocieerd met asymmetrische ptose en, minder frequent, andere oculaire manifestaties (e.g. oftalmoplegie, strabisme). Getroffen individuen hebben geregeld een bolle neus, gegroefde tong, micro-/retrognathie, korte nek/hals, congenitale dislocatie van de heup, klompvoeten, scoliose en kleine gestalte."},"pt":{"name":"Artrogripose distal tipo 5D"},"pl":{"name":"Artrogrypoza dystalna typu 5D","synonyms":["Artrogrypoza dystalna typu 5 bez oftalmoparezy","Artrogrypoza dystalna typu 5 bez oftalmoplegii","DA5D"]},"cs":{"name":"Distální artrogrypóza, typ 5D","synonyms":["DA5D","Distální artrogrypóza, typ 5 bez oftalmoparézy","Distální artrogrypóza, typ 5 bez oftalmoplegie"]},"uk":{"name":"Дистальний артрогрипоз, тип 5D","synonyms":["DA5D","Дистальний артрогрипоз 5 типу без офтальмопарезу","Дистальний артрогрипоз 5 типу без офтальмоплегії"],"definition":"Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature."},"zh":{"name":"5D型末端关节挛缩","synonyms":["末端关节挛缩5型不伴眼肌瘫痪"],"definition":"远端关节挛缩5D型是一种罕见的远端关节挛缩综合征的亚型，其特征是多发性先天性关节炎，影响手、脚、踝、肩和/或颈部，手指先天性屈曲，膝关节和髋关节伸展受限，伴有不对称上睑下垂，少见其他眼部表现（如眼肌麻痹、斜视）。患者常有球鼻、沟纹舌、小颌畸形/下颌后缩、短颈、先天性髋关节脱位、棒状足、脊柱侧凸和身材矮小。"},"tr":{"name":"Distal artrogripoz tip 5D","synonyms":["DA5D","Oftalmopleji ile seyretmeyen distal artrogripozis tip 5","Oftalmoparezi ile seyretmeyen distal artrogripozis tip 5"]}},"xrefs":[{"source":"OMIM","code":"615065","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014028","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554415","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":[{"symbol":"ECEL1","name":"endothelin converting enzyme like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23261301[PMID]","hgnc":"3147","ensembl":"ENSG00000171551","omim":"605896","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"25099528[PMID]_24782201[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25099528[PMID]_24782201[PMID]"}],"phenotypes":null}