{"orpha":444316,"name":"Idiopathic phalangeal acro-osteolysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic phalangeal acroosteolysis"],"definition":"A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444316/","orphanet_url":"https://www.orpha.net/en/disease/detail/444316","names":{"fr":{"name":"Acro-ostéolyse phalangienne idiopathique","synonyms":["Acroostéolyse phalangienne idiopathique"],"definition":"Maladie osseuse rare caractérisée par la résorption osseuse des phalanges distales, le plus souvent au niveau des houppes phalangiennes, en l'absence d'une cause connue. Chez les patients atteints, on observe des doigts ou des orteils raccourcis, des déformations des ongles (ongles dystrophiques ou hypertrophiques) et des atteintes cutanées (des ulcérations ou des anomalies pigmentaires)."},"de":{"name":"Akroosteolyse, idiopathische phalangeale","definition":"Eine seltene Knochenkrankheit, die durch eine Knochenresorption gekennzeichnet ist, die das distale Fingerglied, meist das Endglied, betrifft, ohne dass eine Ursache bekannt ist. Die Patienten zeigen eine Verkürzung der betroffenen Finger oder Zehen, verbunden mit Nagelanomalien (dystrophische oder hypertrophe Nägel) und Hautveränderungen (wie Ulzerationen oder Pigmentanomalien)."},"es":{"name":"Acro-osteólisis falángica idiopática","synonyms":["Acroosteólisis falángica idiopática"],"definition":"Es una enfermedad ósea poco frecuente caracterizada por reabsorción ósea que afecta a la falange distal, más comúnmente al extremo terminal, en ausencia de una causa conocida. Los pacientes presentan acortamiento de los dedos de las manos o de los pies afectos, asociado con anomalías ungueales (uñas distróficas o hipertróficas) y cambios en la piel (como ulceración o anomalías pigmentarias)."},"it":{"name":"Acro-osteolisi idiopatica delle falangi","synonyms":["Acroosteolisi falangea idiopatica"],"definition":"Si tratta di una malattia scheletrica rara, caratterizzata dal riassorbimento osseo della falange distale, di solito del ciuffo terminale. L'eziologia non è nota. I pazienti presentano un accorciamento delle dita delle mani o dei piedi, associato ad anomalie delle unghie (distrofia o ipertrofia) e ad alterazioni della cute (ulcere o anomalie della pigmentazione)."},"nl":{"name":"Idiopathische falangeale acro-osteolyse","definition":"Een zeldzame aandoening van bot, gekarakteriseerd door botresorptie die distale falanx aantast, meestal het distale uiteinde ervan, in afwezigheid van een gekende oorzaak. Patiënten vertonen verkorting van aangetaste vingers of tenen, geassocieerd met nagelanomalieën (dystrofische of hypertrofische nagels) en veranderingen van huid (zoals ulceratie of pigmentanomalieën)."},"pt":{"name":"Acrosteólise idiopática das falanges"},"pl":{"name":"Idiopatyczna akroosteoliza paliczków","synonyms":["Idiopathic phalangeal acroosteolysis"]},"cs":{"name":"Idiopatická falangeální akroosteolýza","synonyms":["Idiopatická falangeální akro-osteolýza"]},"uk":{"name":"Ідіопатичний фаланговий акроостеоліз","synonyms":["Ідіопатичний фаланговий акроостеоліз"],"definition":"A rare bone disease characterized by bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies)."},"zh":{"name":"特发性指骨肢端溶解","synonyms":["特发性指骨肢端溶解"],"definition":"一种罕见的骨病，特征是在未知原因的情况下，远端指骨的骨吸收异常（最常见的是终末端）。患者的指甲或脚趾缩短，与指甲异常（营养不良或肥大的指甲）和皮肤变化（如溃疡或色素异常）有关"},"tr":{"name":"İdiyopatik falangeal akro-osteoliz","synonyms":["İdiyopatik falanjiyal akroosteoliz"]}},"xrefs":[{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018635","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680064","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399158,"name":"Osteonecrosis","classifications":[196,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}