{"orpha":294975,"name":"Isolated absence of upper arm and forearm with hand present","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital humero-radio-ulnar intercalary transverse meromelia"],"definition":"A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294975/","orphanet_url":"https://www.orpha.net/en/disease/detail/294975","names":{"fr":{"name":"Absence isolée du bras et de l'avant-bras avec main conservée","synonyms":["Méromélie intercalaire transverse huméro-radio-cubitale isolée","Méromélie intercalaire transverse huméro-radio-ulnaire isolée"],"definition":"Anomalie congénitale rare des membres caractérisée par l'absence ou le raccourcissement marqué des segments proximal ou moyen d'un membre supérieur, la main étant quasi normale, voire normale. L'anomalie peut être unilatérale ou bilatérale, et se manifester sous la forme sporadique ou dans le cadre d'un syndrome malformatif."},"de":{"name":"Isoliertes Fehlen von Ober- und Unterarm bei vorhandener Hand","synonyms":["Isolierte kongenitale humero-radioulnare interkalartransverse Meromelie"],"definition":"Eine seltene angeborene Fehlbildung der Gliedmaßen, die durch das Fehlen oder die deutliche Verkürzung des proximalen bis mittleren Teils einer oberen Gliedmaße gekennzeichnet ist, während die Hand normal oder nahezu normal ist. Die Erkrankung kann ein- oder beidseitig sein und sporadisch oder als Teil eines Fehlbildungssyndroms auftreten."},"es":{"name":"Ausencia aislada de la parte superior del brazo y el antebrazo con presencia de la mano","synonyms":["Meromelia intercalar transversa húmero-radio-cubital congénita aislada"],"definition":"Es una malformación congénita poco frecuente de las extremidades caracterizada por la ausencia o acortamiento marcado de la porción proximal a media de una extremidad superior, mientras que la mano es normal o prácticamente normal. La afección puede ser uni- o bilateral y ocurre esporádicamente o como parte de un síndrome malformativo."},"it":{"name":"Aplasia isolata del braccio e dell'avambraccio con presenza della mano","synonyms":["Meromelia omero-radio-ulnare trasversale intercalare congenita isolata"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dall'agenesia o dal marcato accorciamento della porzione prossimale e mediana di un arto superiore, mentre la mano è normale o quasi normale. Può essere mono- o bilaterale, sporadica o fare parte di una sindrome malformativa."},"nl":{"name":"Geïsoleerde congenitale afwezigheid van bovenarm en onderarm met hand aanwezig","synonyms":["Geïsoleerde humeroradio-ulnaire intercalaire transversale meromelie"],"definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door afwezigheid of uitgesproken verkorting van het proximale tot middelste del van een bovenste ledemaat, terwijl hand normaal of bijna normaal is. De aandoening kan unilateraal of bilateraal zijn, en sporadisch of als deel van een malformatiesyndroom voorkomen."},"pt":{"name":"Ausência isolada do braço e antebraço com mão presente","synonyms":["Meromelia intercalar transversa úmero-radio-ulnar isolada congénita"]},"pl":{"name":"Izolowany brak ramienia i przedramienia przy obecności ręki","synonyms":["Fokomelia"]},"cs":{"name":"Vrozené chybění nadloktí a předloktí s přítomností ruky","synonyms":["Humero-radio-ulnární interkalární transverzální meromelie","Fokomelie horní končetiny"]},"uk":{"name":"Ізольована відсутність плеча та передпліччя при наявності кисті","synonyms":["Ізольована вроджена гумеро-радіо-ульнарна інтеркалярна поперечна меромелія"],"definition":"A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome."},"zh":{"name":"先天性上臂和前臂缺失并有手部存在","synonyms":["肱-桡-尺骨干横贯残肢畸形"],"definition":"一种罕见的先天性肢体畸形，特征是上肢近端至中段缺如或明显缩短，而手则正常或接近正常。可偶发或为畸形综合症的一部分发生。"},"tr":{"name":"Doğumsal el mevcutken üst kol ve ön kol yokluğu","synonyms":["Humero-radioulnar interkalar transvers meromeli"]}},"xrefs":[{"source":"ICD-10","code":"Q71.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB99.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1157109358"},{"source":"MONDO","code":"0017441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925022","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12123","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295085,"name":"OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral","status":"inactive"},{"type":"Referred to","orpha":295087,"name":"OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294927,"name":"Non-syndromic intercalary limb defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Worldwide","status":"Validated","source":"22002800[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22002800[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-04","source":"3890511[PMID]_22002800[PMID]","terms":[{"hpo":"HP:0009813","label":"Upper limb phocomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033127","label":"Abnormality of the musculoskeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003826","label":"Stillbirth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011603","label":"Congenital malformation of the great arteries","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very rare (<4-1%)","criteria":null}]}}