{"orpha":1144,"name":"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome","Distal arthrogryposis type 6"],"definition":"A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1144/","orphanet_url":"https://www.orpha.net/en/disease/detail/1144","names":{"fr":{"name":"Syndrome d'arthrogrypose de la main-surdité","synonyms":["Arthrogrypose distale type 6"],"definition":"Le syndrome d'arthrogrypose de la main-surdité est caractérisé par une anomalie de la main de type arthrogrypose et par une surdité neuro-sensorielle. Il a été décrit dans une seule famille. La transmission se fait entre les individus masculins."},"de":{"name":"Arthrogrypose-ähnliche Handanomalie mit sensorineuraler Schwerhörigkeit","synonyms":["Arthrogrypose, distale, Typ 6"],"definition":"Dieses Syndrom ist gekennzeichnet durch eine arthrogrypose-artige Anomalie der Hände und durch sensorisch-neurale Schwerhörigkeit. Es wurde nur in 1 Familie beschrieben, in der auch Vererbung vom Vater auf den Sohn vorkam."},"es":{"name":"Síndrome de anomalías de la mano similar a artrogriposis-sordera neurosensorial","synonyms":["Artrogriposis distal tipo 6","Síndrome de anomalías de la mano artrogriposis-like-sordera neurosensorial","Síndrome de anomalías de la mano similar a artrogriposis-hipoacusia neurosensorial"],"definition":"Es un síndrome poco frecuente caracterizado por una anomalía de la mano similar a la artrogriposis y sordera neurosensorial. Se ha descrito en una sola familia, observándose una transmisión de hombre a hombre."},"it":{"name":"Anomalia delle mani simile all'artrogriposi - sordità neurosensoriale","synonyms":["Artrogriposi distale, tipo 6"]},"nl":{"name":"Artrogrypose-achtige handanomalie - sensorineurale doofheid-syndroom","synonyms":["Distale artrogrypose type 6"],"definition":"Een zeldzaam syndroom, gekarakteriseerd door een artrogrypose-achtige handanomalie en sensorineurale doofheid. Het werd bij slechts één familie beschreven. Er werd overdracht van mannen op mannen waargenomen."},"pt":{"name":"Síndrome de anomalia da mão tipo artrogripose-surdez neurossensorial","synonyms":["Artrogripose distal tipo 6"]},"pl":{"name":"Wada dłoni podobna do artrogrypozy - głuchota czuciowo-nerwowa","synonyms":["Artrogrypoza dystalna typu 6"]},"cs":{"name":"Distální artrogrypóza, typ 6","synonyms":["Syndrom zahrnující anomálii ruky podobnou artrogrypóze a percepční nedoslýchavost"]},"uk":{"name":"Синдром артрогрипоз-подібної аномалії кисті та сенсоневральної глухоти","synonyms":["Синдром подібної до артрогрипозної аномалії кисті-сенсоневральної приглуховатості","Дистальний артрогрипоз, тип 6"],"definition":"A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed."},"zh":{"name":"关节挛缩样手畸形-感觉神经性耳聋综合征","synonyms":["关节挛缩样手畸形-感音神经性听力丧失综合征"]},"tr":{"name":"Artrogripoz benzeri el anomalisi-sensörinöral sağırlık sendromu","synonyms":["Distal artrogripozis tip 6","Artrogripozis benzeri el anomalisi-sensörinöral işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"108200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"875196"},{"source":"MONDO","code":"0007159","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535386","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862471","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"784","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"5539065[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5539065[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}