{"orpha":973,"name":"Isolated absence/hypoplasia of fingers excluding thumb, unilateral","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital adactyly of hand, unilateral","Isolated digits 2-5 hypodactyly, unilateral","Isolated digits 2-5 oligodactyly, unilateral"],"definition":"Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-973/","orphanet_url":"https://www.orpha.net/en/disease/detail/973","names":{"fr":{"name":"Absence/hypoplasie isolée unilatérale des doigts à l'exception du pouce","synonyms":["Adactylie congénitale isolée unilatérale de la main","Hypodactylie congénitale isolée unilatérale des doigts 2-5","Oligodactylie congénitale isolée unilatérale des doigts 2-5"],"definition":"Anomalie réductionnelle rare des membres non syndromique caractérisée par l'absence unilatérale des parties terminales des doigts deux à cinq et par un pouce légèrement hypoplastique, les moignons digitaux ayant conservé une petite partie d'ongles. La réduction des os métacarpiens peut être variable."},"de":{"name":"Isolierte unilaterale Fingeraplasie/-hypoplasie, excl. Daumen","synonyms":["Isolierte kongenitale Adaktylie der Hand, unilateral","Isolierte unilaterale Hypodaktylie der Phalangen 2-5","Isoliertes unilaterales Fehlen der Phalangen 2-5"],"definition":"Die einseitige, angeborene Abwesenheit bzw. Hypoplasie der Finger mit Ausnahme des Daumens ist ein seltener, nicht-syndromaler, terminaler transversaler Gliedmaßenreduktionsdefekt. Klinisch fehlen an den Händen die distalen Anteile des 2.-5. Fingers. Der Daumen ist hypoplastisch. Sehr kleine Reste der Fingernägel können an den Fingerstümpfen erhalten sein. Die ipsilateralen Metacarpalia sind mehr oder weniger stark reduziert."},"es":{"name":"Ausencia/hipoplasia aislada de los dedos de la mano a excepción del pulgar, unilateral","synonyms":["Adactilia congénita de la mano aislada, unilateral","Hipodactilia aislada de los dedos 2-5, unilateral","Oligodactilia aislada de los dedos 2-5, unilateral"],"definition":"La ausencia / hipoplasia congénita unilateral de los dedos de la mano a excepción del pulgar es un defecto de reducción terminal transversal de la extremidad, no sindrómico y poco frecuente, caracterizado por la ausencia unilateral de las porciones terminales de los dígitos 2º a 5º, con un pulgar levemente hipoplásico y pequeños restos de uñas en los muñones de los dedos. Los huesos metacarpianos pueden estar reducidos de forma variable."},"it":{"name":"Aplasia/ipoplasia isolata monolaterale delle dita delle mani ad esclusione del pollice","synonyms":["Adattilia congenita monolaterale isolata della mano","Adattilia unilaterale della mano","Ipodattilia unilaterale delle dita della mano 2-5","Oligodattilia unilaterale delle dita della mano 2-5"],"definition":"L'aplasia/ipoplasia congenita monolaterale delle dita delle mani con pollice integro è un difetto raro e non sindromico da riduzione terminale trasversale degli arti, caratterizzato dall'aplasia monolaterale delle porzioni terminali di 2-5 dita, associata a pollice lievemente ipoplastico e piccoli residui di unghie sui monconi delle dita. Può associarsi ad una riduzione di grado variabile delle ossa del metacarpo."},"nl":{"name":"Geïsoleerde afwezigheid/hypoplasie van vingers exclusief duim, unilateraal","synonyms":["Geïsoleerde congenitale adactylie van hand, unilateraal","Geïsoleerde hypodactylie van vingers 2-5, unilateraal","Geïsoleerde oligodactylie van vingers 2-5, unilateraal"],"definition":"Congenitale unilaterale afwezigheid/hypoplasie van vingers exclusief duim is een zeldzaam, niet-syndromaal, terminaal transversaal ledemaatreductiedefect dat gekarakteriseerd wordt door unilaterale afwezigheid van de terminale delen van de 2de tot de 5de vingers, met milde hypoplasie van de duim en kleine restanten van nagels op de stompen van de vingers. ook de middenhandsbeentjes kunnen in variabele mate gereduceerd zijn."},"pt":{"name":"Ausência isolada/hipoplasia dos dedos excluindo o polegar, unilateral","synonyms":["Adactilia congénita isolada da mão, unilateral","Hipoactilia isolada dos dedos 2-5, unilateral","Oligodactilia isolada dos dedos 2-5, unilateral"],"definition":"A adactilia unilateral é um defeito transverso terminal da mão, caracterizado pela ausência das porções terminais dos dígitos 2 a 5 com um polegar hipoplásico (adactilia)."},"pl":{"name":"Wrodzony jednostronny brak/niedorozwój palców z wyjątkiem kciuka","synonyms":["Adaktylia dłoni, jednostronna","Hipodaktylia palców 2-5, jednostronna","Oligodaktylia palców 2-5, jednostronna","Izolowany brak/hipoplazja palców z wyjątkiem kciuka, jednostronna"],"definition":"*Wrodzony jednostronny brak/niedorozwój palców z wyjątkiem kciuka jest rzadką, izolowaną poprzeczną wadą ubytkową dystalnego odcinka kończyny. Charakteryzuje się jednostronnym brakiem końcowych odcinków palców 2 do 5, z nieznaczną hipoplazją kciuka i paznokciami resztkowymi na kikutach palców. Ubytki różnego typu mogą dotyczyć kości śródręcza."},"cs":{"name":"Unilaterální vrozená absence/hypoplázie prstů kromě palců","synonyms":["Adaktylie ruky, unilaterální","Unilaterální hypodaktylie prstů 2-5","Unilaterální oligodaktylie prstů 2-5"]},"uk":{"name":"Ізольована відсутність/гіпоплазія пальців, крім великого, одностороння","synonyms":["Ізольована вроджена адактилія кисті, одностороння","Ізольована гіподактилія 2-5 пальців, одностороння","Олігодактилія ізольованих пальців 2-5, одностороння"],"definition":"Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced."},"zh":{"name":"先天性除拇指外单侧手指缺如/发育不全","synonyms":["第2-5指少指畸形，单侧"]},"tr":{"name":"Doğumsal yokluk/baş parmak hariç parmakların tek taraflı hipoplazisi","synonyms":["Adaktili el, unilateral","2-5 rakamlar hipodaktili, unilateral","2-5 rakamları oligodaktili, unilateral"]}},"xrefs":[{"source":"OMIM","code":"102650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB99.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1707247284"},{"source":"MONDO","code":"0007062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924999","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"377","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498461,"name":"Non-syndromic terminal transverse limb defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3725479[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3725479[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009988","label":"Duplication of the distal phalanx of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001799","label":"Short nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null}]}}