{"orpha":2987,"name":"Antecubital pterygium syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2987/","orphanet_url":"https://www.orpha.net/en/disease/detail/2987","names":{"fr":{"name":"Syndrome du ptérygium antécubital","definition":"Anomalie génétique rare du derme caractérisée par une palmure antécubitale bilatérale, plutôt symétrique, qui s'étend du tiers distal de l'humérus au tiers proximal de l'avant-bras, associée à des anomalies musculosquelettiques (absence du chef long du triceps, luxation postérieure bilatérale de la tête radiale et hypoplasie de l'olécrâne) et à une absence de sillons cutanés au niveau des articulations interphalangiennes terminales des doigts, se manifestant sur le plan clinique par une extension et une supination modérément à sévèrement limitées du coude."},"de":{"name":"Pterygium-Syndrom, antekubitales","definition":"Eine seltene, genetisch bedingte Hauterkrankung, die durch eine beidseitige, ziemlich symmetrische antekubitale Versteifung gekennzeichnet ist, die sich vom distalen Drittel des Humerus bis zum proximalen Drittel des Unterarms erstreckt und mit muskuloskelettalen Anomalien (z. B. Fehlen des langen Trizepskopfes, beidseitige hintere Dislokation des Radialiskopfes und Hypoplasie der Olekranonfortsätze) und fehlenden Hautfalten über den Fingerendgelenken einhergeht. Klinisch äußert sich dies durch eine mäßige bis schwere Einschränkung der Streckung und Supination des Ellenbogens."},"es":{"name":"Síndrome de pterigium antecubital","definition":"Es un trastorno genético y poco frecuente de la dermis caracterizado por pliegues antecubitales bilaterales y simétricos que se extienden desde el tercio distal del húmero hasta el tercio proximal del antebrazo, asociados a anomalías musculoesqueléticas (ausencia del vasto largo del tríceps, luxación posterior bilateral de la cabeza radial e hipoplasia de olécranon) y ausencia de pliegues cutáneos en las articulaciones interfalángicas terminales de los dedos de las manos. Clínicamente se manifiesta con una limitación, de moderada a grave, de la extensión de codo y de la supinación."},"it":{"name":"Sindrome da pterigio dei gomiti","definition":"È una malattia genetica rara del derma, caratterizzata dalla presenza di pliche bilaterali a livello dei gomiti, tendenzialmente simmetriche, che si estendono dal terzo distale dell'omero fino al terzo prossimale dell'avambraccio, e si associano ad anomalie muscolo-scheletriche (assenza del capo lungo del tricipite, dislocazione posteriore bilaterale del capo radiale e ipoplasia dei processi olecranici) e all'assenza delle pliche cutanee a livello delle articolazioni interfalangee terminali delle dita delle mani che clinicamente si manifestano con una limitazione moderata o grave dell'estensione e della supinazione del gomito."},"nl":{"name":"Antecubitaal pterygium-syndroom","definition":"Een zeldzame, genetische stoornis van de dermis die gekarakteriseerd wordt door bilaterale, vrij symmetrische, antecubitale huidplooien vanaf het distale derde deel van het opperarmbeen tot het proximale derde deel van de onderarm, geassocieerd met musculoskeletale afwijkingen (i.e. afwezige lange kop van de triceps, bilaterale posterieure dislocatie van de radiuskop en hypoplasie van het olecranon) en afwezigheid van huidplooien op de terminale interfalangeale gewrichten van de vingers, en die zich klinisch manifesteert met matige tot ernstige beperking van extensie en supinatie van de elleboog."},"pt":{"name":"Síndrome pterígio antecubital"},"pl":{"name":"Zespół płetwistości łokciowych"},"cs":{"name":"Syndrom antekubitálních pterygií"},"uk":{"name":"Синдром антекубітального птеригіуму","definition":"A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation."},"zh":{"name":"肘前翼状胬肉综合征"},"tr":{"name":"Antekubital piterjiyum sendromu"}},"xrefs":[{"source":"OMIM","code":"178200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867439","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4570","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"3409540[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3409540[PMID]"}],"phenotypes":null}