{"orpha":3294,"name":"Extensor tendons of finger anomalies","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hapnes-Boman-Skeie syndrome"],"definition":"Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3294/","orphanet_url":"https://www.orpha.net/en/disease/detail/3294","names":{"fr":{"name":"Anomalie des tendons extenseurs des doigts","synonyms":["Syndrome de Hapnes-Boman-Skeie"],"definition":"Anomalie congénitale des membres d'origine génétique rare, caractérisée par une anomalie bilatérale de l'attachement des tendons extenseurs des quatre doigts cubitaux. La fixation se fait sur les faces médiales et latérales des phalanges moyennes, ce qui entraîne une flexion constante des articulations médiophalangiennes et l'incapacité d'étendre les doigts. Aucun cas n'a été décrit dans la littérature depuis 1980."},"de":{"name":"Anomalien der Fingerstrecksehnen","synonyms":["Hapnes-Boman-Skeie-Syndrom"]},"es":{"name":"Anomalía de los tendones extensores de los dedos de las manos","synonyms":["Síndrome de Hapnes-Boman-Skeie"],"definition":"Es una malformación congénita y genética poco frecuente caracterizada por una unión bilateral anómala de los tendones extensores de los cuatro dedos cubitales. La unión ocurre en la parte medial y lateral de las falanges medias, provocando una flexión constante en las uniones de las falanges medias y una incapacidad para extender los dedos. No ha habido más casos descritos en la literatura desde 1980."},"it":{"name":"Anomalia dei tendini estensori delle dita","synonyms":["Sindrome di Hapnes-Boman-Skeie"],"definition":"Le anomalie dei tendini estensori delle dita delle mani caratterizzano una malattia malformativa congenita rara degli arti, di origine genetica, secondaria ad anomalie bilaterali dell'attaccatura dei tendini estensori delle quattro dita ulnari. L'attaccatura, che si trova nell'area mediana e laterale delle falangi medie, causa una costante flessione delle articolazioni medie delle falangi e l'impossibilità di estendere le dita. Non sono stati descritti nuovi casi dopo il 1980."},"nl":{"name":"Anomalieën van extensorpezen van vinger","synonyms":["Anomalieën van strekpezen van vinger","Syndroom van Hapnes-Boman-Skeie"],"definition":"Afwijkingen aan de extensorpezen van de vinger is een zeldzame, genetische, congenitale malformatie van de ledematen die gekarakteriseerd wordt door bilaterale abnormale aanhechting van de strekpezen van de vier ulnaire vingers. De aanhechting gebeurt aan de mediale en laterale delen van de middelste falangen, wat leidt tot constante flexie in de gewrichten van de middelste vingerkootjes en een onvermogen om de vingers te strekken. Sinds 1980 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Anomalias dos tendões extensores dos dedos","synonyms":["Síndrome Hapnes-Boman-Skeie"]},"pl":{"name":"Wydłużone ścięgna palców","synonyms":["Zespół Hapnesa, Bomana i Skeie"]},"cs":{"name":"Anomálie extenzorů šlach prstů","synonyms":["Hapnesův-Bomanův-Skeieův syndrom","Hapnes-Boman-Skeieův syndrom"]},"uk":{"name":"Аномалії сухожилля розгиначів пальців","synonyms":["Синдром Гапнеса-Бомана-Скейє"],"definition":"Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980."},"zh":{"name":"指伸肌腱异常","synonyms":["Hapnes-Boman-Skeie综合征"]},"tr":{"name":"Parmak anomalilerinin ekstansör tendonları","synonyms":["Hapnes-Boman-Skeie sendromu"]}},"xrefs":[{"source":"OMIM","code":"187390","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008540","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931376","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7363507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7363507[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-14","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}