{"orpha":2926,"name":"Digital extensor muscle aplasia-polyneuropathy","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy","Hamanishi-Ueba-Tsuji syndrome","Polyneuropathy-hand defect syndrome"],"definition":"Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2926/","orphanet_url":"https://www.orpha.net/en/disease/detail/2926","names":{"fr":{"name":"Aplasie des muscles extenseurs des doigts et pouce-polyneuropathie","synonyms":["Syndrome de Hamanishi-Ueba-Tsuji","Syndrome de polyneuropathie-camptodactylie"],"definition":"Une neuropathie héréditaire rare, motrice et sensorielle, caractérisée par des déformations en flexion du pouce et des doigts, un trouble sensoriel au niveau de la main, et des données polyneuropathiques révélées à l'examen électrophysiologique des membres. L'opération chirurgicale des mains montre une absence ou une hypoplasie des muscles extenseurs et de leurs tendons. Il n'y a pas eu de description ultérieure dans la littérature depuis 1986."},"de":{"name":"Aplasie der Fingerstrecker mit Polyneuropathie","synonyms":["Hamanishi-Ueba-Tsuji-Syndrom","Kongenitale Aplasie der Streckmuskeln von Finger und Daumen mit assoziierter generalisierter Polyneuropathie","Polyneuropathie-Handfehlbildung-Syndrom"]},"es":{"name":"Aplasia de los músculos extensores de los dedos-polineuropatía","synonyms":["Aplasia congénita de los músculos extensores de los dedos asociada a polineuropatía generalizada","Síndrome de Hamanishi-Ueba-Tsuji","Síndrome de polineuropatía-defecto de la mano"],"definition":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por deformidades en flexión del pulgar y demás dedos de la mano, déficit sensitivo en la mano y hallazgos electrofisiológicos de polineuropatía en las extremidades. La intervención quirúrgica en las manos revela ausencia o hipoplasia de los músculos extensores y sus tendones. No se han descrito más casos en la literatura desde 1986."},"it":{"name":"Aplasia dei muscoli estensori delle dita e polineuropatia","synonyms":["Sindrome di Hamanishi-Ueba-Tsuji"],"definition":"L'aplasia dei muscoli estensori delle dita associata alla polineuropatia è una neuropatia motoria e sensoriale ereditaria rara, caratterizzata da deformità in flessione del pollice e delle dita, deficit sensoriali nella mano ed evidenze elettrofisiologiche di polineuropatia agli arti. Gli interventi chirurgici sulla mano evidenziano l'assenza o l'ipoplasia dei muscoli estensori e dei loro tendini. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Aplasie van vingerextensoren - polyneuropathie","synonyms":["Congenitale aplasie van strekspieren van vingers en duim geassocieerd met gegeneraliseerde polyneuropathie","Polyneuropathie - handdefect-syndroom","Syndroom van Hamanishi-Ueba-Tsuji"],"definition":"Aplasie van de vingerextensoren - polyneuropathie is een zeldzame, erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door flexiemisvormingen van duim en vingers, sensorische defecten in de hand, en polyneuropathische elektrofysiologische bevindingen in de ledematen. Operatie van de handen toont aan dat strekspieren en de bijhorende pezen afwezig of hypoplastisch zijn. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Aplasia do músculo extensor digital-polineuropatia","synonyms":["Polineuropatia-anomalias das mãos","Síndrome Hamanishi-Ueba-Tsuji"]},"pl":{"name":"Aplazja mięśni prostowników palców - polineuropatia","synonyms":["Zespół Hamanishi, Ueba i Tsuji"],"definition":"*Aplazja mięśni prostowników palców - polineuropatia to rzadka, dziedziczna neuropatia ruchowo-czuciowa, która charakteryzuje się utrwalonymi ustawieniem zgięciowym kciuka i palców, zaburzeniami czucia w obrębie dłoni i zmianami o charakterze polineuropatii w kończynach, które stwierdza się w badaniu elektrofizjologicznym. Podczas operacji rąk stwierdza się brak lub niedorozwój mięśni prostowników i ich ścięgien. Od 1986 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující polyneuropatii a defekt ruky","synonyms":["Hamanishiové-Uebaův-Tsujiho syndrom","Hamanishi-Ueba-Tsujiho syndrom"]},"uk":{"name":"Аплазія мязів-розгиначів пальців кисті з полінейропатією","synonyms":["Вроджена аплазія мязів-розгиначів пальців кисті та великого пальця, повязана з генералізованою полінейропатією","Синдром Хаманіші-Уеба-Цудзі","Синдром полінейропатії - дефекту кисті"],"definition":"Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986."},"zh":{"name":"指伸肌发育不良-多发性神经病","synonyms":["多发性神经病-手部缺陷综合征"]},"tr":{"name":"Dijital ekstansör kas aplazisi-polinöropati","synonyms":["Jeneralize polinöropati ile ilişkili parmakların ve başparmağın ekstansör kaslarının Doğumsal aplazisi","Hamanishi-Ueba-Tsuji sendromu","Polinöropati-el defekti sendromu"]}},"xrefs":[{"source":"OMIM","code":"207740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008809","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535624","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930955","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2589","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166,"name":"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3459358[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3459358[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-11","source":null,"terms":[{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001460","label":"Aplasia/Hypoplasia involving the skeletal musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null}]}}