{"orpha":294979,"name":"Isolated absence of both forearm and hand","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital radio-ulnar terminal transverse meromelia"],"definition":"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294979/","orphanet_url":"https://www.orpha.net/en/disease/detail/294979","names":{"fr":{"name":"Absence isolée de l'avant-bras et de la main","synonyms":["Méromélie terminale transverse radio-cubitale isolée","Méromélie terminale transverse radio-ulnaire isolée"],"definition":"Anomalie congénitale rare des membres qui se caractérise par l'arrêt unilatéral ou bilatéral du développement des segments proximal et distal du membre supérieur, conduisant à une malformation transverse, avec arrêt de formation de l'avant-bras, du poignet et de la main. Généralement « amputé » sous le coude, le membre résiduel est charnu et son extrémité rudimentaire comporte une formation évoquant une ébauche des doigts."},"de":{"name":"Isoliertes angeborenes Fehlen von Unterarm und Hand","synonyms":["Isolierte kongenitale radioulnare terminaltransverse Meromelie"],"definition":"Das angeborene Fehlen von Unterarm und Hand ist ein seltener Entwicklungsdefekt während der Embryogenese, der durch einen ein- oder beidseitigen Stillstand der proximalen bis distalen Entwicklung der oberen Extremität gekennzeichnet ist und zu einem Querdefizit mit Fehlen von Unterarm, Handgelenk und Hand führt. Am häufigsten wird eine Amputation kurz unterhalb des Ellenbogens beobachtet, wobei die restliche Gliedmaße (an deren Ende sich rudimentäre Höcker oder Knötchen befinden können) in der Regel gut abgepolstert ist."},"es":{"name":"Ausencia aislada de antebrazo y mano","synonyms":["Meromelia terminal transversa congénita aislada de radio-cúbito"],"definition":"La ausencia congénita de antebrazo y mano, es un defecto congénito poco frecuente del desarrollo embrionario, caracterizado por la detención, uni- o bilateral, del desarrollo proximal o distal de las extremidades superiores. El resultado es un defecto transversal tipo amputación, con ausencia del antebrazo, muñeca y mano. Con cierta frecuencia, se observa una amputación por debajo del codo, estando por lo general la parte distal bien recubierta de tejido blando, con nudillos o nódulos rudimentarios en el extremo de la misma."},"it":{"name":"Assenza isolata combinata dell'avambraccio e della mano","synonyms":["Meromelia congenita isolata radioulnare trasversale terminale"],"definition":"L'assenza congenita combinata dell'avambraccio e della mano è un difetto raro dello sviluppo dell'embrione, caratterizzato dall'arresto mono- o bilaterale dello sviluppo prossimale e distale degli arti superiori, che esita in un difetto traversale con assenza dell'avambraccio, del polso e della mano. Di solito l'amputazione si verifica al di sotto del gomito e l'arto residuo in genere è ben strutturato, con protuberanze o appendici rudimentali occasionalmente presenti sulle estremità."},"nl":{"name":"Geïsoleerde afwezigheid van onderarm en hand","synonyms":["Geïsoleerde congenitale radio-ulnaire terminale transversale meromelie"],"definition":"Congenitale afwezigheid van zowel onderarm als hand is een zeldzaam ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door unilateraal of bilateraal arrest van de proximale naar distale ontwikkeling van de bovenste ledematen, wat leidt tot een transversale deficiëntie met afwezigheid van de onderarm, pols en hand. Doorgaans wordt een korte amputatie onder de elleboog waargenomen, en de overgebleven extremiteit is meestal goed bedekt met zacht weefsel, met mogelijk rudimentaire stompjes of ledematen aan het uiteinde."},"pt":{"name":"Ausência isolada do antebraço e mão","synonyms":["Meromelia terminal transversa radio-cubital isolada congénita"]},"pl":{"name":"Izolowany brak przedramienia i dłoni","synonyms":["Isolated congenital radio-ulnar terminal transverse meromelia"]},"cs":{"name":"Vrozené chybění předloktí a ruky","synonyms":["Radio-ulnární terminální transverzální meromelie"]},"uk":{"name":"Ізольована відсутність передпліччя та кисті","synonyms":["Ізольована вроджена радіоульнарна термінальна поперечна меромелія"],"definition":"Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end."},"zh":{"name":"先天性前臂和手部缺失","synonyms":["桡尺末端横贯残肢畸形"],"definition":"前臂和手的先天性缺如是一种罕见的胚胎发育缺陷，其特征是单侧或双侧上肢近端至远端发育停止，导致前臂、腕部和手缺如的横向缺陷。肘部以下短截肢是最为常见，残肢常有缓冲，包裹良好。"},"tr":{"name":"Doğumsal ön kol ve el yokluğu","synonyms":["Radyo-ulnar terminal transvers meromeli"]}},"xrefs":[{"source":"ICD-10","code":"Q71.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB99.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"810894993"},{"source":"MONDO","code":"0017443","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925020","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295093,"name":"OBSOLETE: Congenital absence of both forearm and hand, unilateral","status":"inactive"},{"type":"Referred to","orpha":295095,"name":"OBSOLETE: Congenital absence of both forearm and hand, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498491,"name":"Non-syndromic complete hemimelia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}