{"orpha":97120,"name":"Distal arthrogryposis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97120/","orphanet_url":"https://www.orpha.net/en/disease/detail/97120","names":{"fr":{"name":"Arthrogrypose distale","definition":"Groupe d'arthrogryposes rares caractérisées par des contractures congénitales d'au moins deux parties du corps, principalement les mains et les pieds, alors que les articulations proximales sont en grande partie épargnées, et par l'absence de troubles neurologiques primaires et/ou de maladies musculaires altérant la fonction des membres. Les critères diagnostiques sont une camptodactylie ou une pseudocamptodactylie, une hypoplasie ou une absence de plis de flexion, un chevauchement des doigts, une déviation ulnaire du poignet, un pied bot, un pied talus valgus, un pied convexe et/ou un métatarsus varus."},"de":{"name":"Arthrogrypose, distale","definition":"Eine Gruppe seltener Arthrogrypose-Syndrome, die durch angeborene Kontrakturen in zwei oder mehr Körperbereichen gekennzeichnet sind, wobei in erster Linie Hände und Füße betroffen sind, während die proximalen Gelenke weitgehend verschont bleiben, ohne dass eine primäre neurologische und/oder Muskelerkrankung vorliegt, die die Funktion der Gliedmaßen beeinträchtigt. Zu den diagnostischen Merkmalen gehören Kamptodaktylie oder Pseudokamptodaktylie, hypoplastische oder fehlende Beugefalten, überlappende Finger, Ulnardeviation am Handgelenk, Klumpfüße, Calcaneovalgus-Fehlbildungen, vertikaler Talus und/oder Metatarsus varus."},"es":{"name":"Artrogriposis distal","definition":"Es un grupo de síndromes de artrogriposis poco frecuente que se caracterizan por contracturas congénitas de dos o más zonas del cuerpo y que afectan principalmente a las manos y los pies, mientras que las articulaciones proximales están prácticamente intactas, en ausencia de una enfermedad neurológica y/o muscular primaria que afecte a la función de las extremidades. Las características diagnósticas incluyen camptodactilia o pseudocamptodactilia, pliegues de flexión hipoplásicos o ausentes, cabalgamiento de los dedos de las manos, desviación cubital de la muñeca, talipes equinovarus, deformidades del calcaneovalgo, astrágalo vertical y/o metatarso varo."},"it":{"name":"Artrogriposi distale","definition":"Si tratta di un gruppo di artrogriposi rare, caratterizzate da contratture congenite di due o più aree del corpo, che interessano principalmente le mani e i piedi, mentre le articolazioni prossimali sono ampiamente risparmiate, in assenza di malattie neurologiche e/o muscolari primarie che compromettano la funzione degli arti. Sono suggestive della diagnosi la camptodattilia o la pseudocamptodattilia, l'ipoplasia o l'agenesia delle pieghe di flessione, la sovrapposizione delle dita, la deviazione ulnare del polso, il piede equino-varo, il piede talo-valgo, il talo verticale e/o il metatarso varo."},"nl":{"name":"Distale artrogrypose","definition":"Een groep van zeldzame syndromen van artrogrypose, gekenmerkt door congenitale contracturen van twee of meer delen van het lichaam, vooral met betrokkenheid van handen en voeten, terwijl proximale gewrichten grotendeels gespaard blijven, in afwezigheid van primaire neurologische en/of musculaire aandoeningen die de functie van ledematen aantasten. Diagnostische kenmerken zijn onder meer camptodactylie of pseudocamptodactylie, hypoplastische of afwezige buigplooien, overliggende vingers, ulnaire deviatie van pols, talipes equinovarus (klompvoet), pes calcaneovalgus (hakvoet), verticale talus, en/of metatarsus varus."},"pt":{"name":"Artrogripose distal"},"pl":{"name":"Artrogrypoza dystalna"},"cs":{"name":"Distální artrogrypózy"},"uk":{"name":"Дистальний артрогрипоз","definition":"A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus."},"zh":{"name":"远端关节挛缩"},"tr":{"name":"Distal artrogripozis"}},"xrefs":[{"source":"OMIM","code":"108120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"108145","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615065","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618436","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620019","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0019942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265213","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":3200,"name":"Arthrogryposis-ectodermal dysplasia syndrome","type":"Malformation syndrome"},{"orpha":1144,"name":"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","type":"Malformation syndrome"},{"orpha":1154,"name":"Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome","type":"Malformation syndrome"},{"orpha":65720,"name":"Arthrogryposis-severe scoliosis syndrome","type":"Malformation syndrome"},{"orpha":370943,"name":"Autism spectrum disorder-epilepsy-arthrogryposis syndrome","type":"Disease"},{"orpha":65743,"name":"Autosomal dominant multiple pterygium syndrome","type":"Malformation syndrome"},{"orpha":115,"name":"Congenital contractural arachnodactyly","type":"Malformation syndrome"},{"orpha":562528,"name":"Congenital limbs-face contractures-hypotonia-developmental delay syndrome","type":"Malformation syndrome"},{"orpha":1146,"name":"Distal arthrogryposis type 1","type":"Malformation syndrome"},{"orpha":251515,"name":"Distal arthrogryposis type 10","type":"Malformation syndrome"},{"orpha":329457,"name":"Distal arthrogryposis type 5D","type":"Disease"},{"orpha":707937,"name":"Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome","type":"Malformation syndrome"},{"orpha":2053,"name":"Freeman-Sheldon syndrome","type":"Malformation syndrome"},{"orpha":376,"name":"Gordon syndrome","type":"Malformation syndrome"},{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease"},{"orpha":2840,"name":"Pelvic dysplasia-arthrogryposis of lower limbs syndrome","type":"Malformation syndrome"},{"orpha":1147,"name":"Sheldon-Hall syndrome","type":"Malformation syndrome"},{"orpha":3377,"name":"Trismus-pseudocamptodactyly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}