{"orpha":248095,"name":"Primary hypertrophic osteoarthropathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Idiopathic hypertrophic osteoarthropathy","PHO"],"definition":"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-248095/","orphanet_url":"https://www.orpha.net/en/disease/detail/248095","names":{"fr":{"name":"Ostéoarthropathie hypertophique primitive","synonyms":["OHP","Ostéoarthropathie hypertophique idiopathique","PHO"],"definition":"L'ostéo-arthropathie hypertrophique primitive constitue un groupe de maladies héréditaires rares, cliniquement et génétiquement hétérogène, qui se caractérise par un hippocratisme digital, une ostéo-arthropathie, des signes variables de pachydermie, un retard de fermeture des fontanelles et une cardiopathie congénitale. Ce groupe comprend deux formes: la pachydermopériostose et la cranio-ostéo-arthropathie. La prévalence est inconnue."},"de":{"name":"Osteoarthropathie, hypertrophe primäre","definition":"Die Primäre hypertrophe Osteoarthropathie (PHO) ist eine erbliche, genetisch und klinisch heterogene Krankheit und gekennzeichnet durchTrommelschlegelfinger und Osteoarthropathie mit unterschiedlich schwer ausgeprägter Pachydermie, verspätetem Fontanellenschluss und angeborenen Herzfehlern. Es gibt zwei Formen der PHO, die Pachydermoperiostose und die Kranio-Osteoarthropathie."},"es":{"name":"Osteoartropatía hipertrófica primaria","synonyms":["Osteoartropatía hipertrófica idiopática","PHO"],"definition":"La osteoartropatía hipertrófica primaria (OHP) constituye un grupo de enfermedades hereditarias genética y clínicamente heterogéneas caracterizadas por hipocratismo digital y osteoartropatía, con signos variables de paquidermia, retraso en el cierre de las fontanelas, y cardiopatías congénitas. Existen dos tipos de OHP: paquidermoperiostosis y cráneo-osteoartropatía (ver términos"},"it":{"name":"Osteoartropatia ipertrofica primitiva","synonyms":["Osteoartropatia ipertrofica idiopatica","PHO"],"definition":"L'osteoartropatia ipertrofica primitiva (PHO) è una malattia ereditaria, geneticamente e clinicamente eterogenea, caratterizzata da ippocratismo digitale e osteoartropatia, pachidermia variabile, ritardo nella chiusura delle fontanelle e cardiopatia. Si conoscono due tipi di PHO: la pachidermoperiostosi e la cranio-osteoartropatia (si vedano questi termini)."},"nl":{"name":"Primaire hypertrofische osteoartropathie","synonyms":["Idiopathische hypertrofische osteoartropathie","PHO"],"definition":"Primaire hypertrofische osteoartropathie (PHO) is een genetische en klinisch heterogeen overgeërfde stoornis gekenmerkt door trommelstokvingers en osteoartropathie, met diverse kenmerken van pachydermie, vertraagde sluiting van de fontanellen, en aangeboren hartziekte. Er zijn twee types PHO: pachydermoperiostose en cranio-osteoartropathie (zie deze termen)."},"pt":{"name":"Osteoartropatia hipertrófica primária","synonyms":["PHO"],"definition":"A osteoartropatia hipertrófica primária (PHO) é uma patologia hereditária, genética e clinicamente heterogénea, caracterizada por baqueteamento digital e osteoartropatia, com manifestações variáveis de paquidermia, encerramento tardio das fontanelas e cardiopatia congénita. Existem dois tipos de PHO: paquidermoperiostose e crânio-osteoartropatia (ver esses termos)."},"pl":{"name":"Pierwotna osteoartropatia przerostowa","synonyms":["Idiopatyczna osteoartropatia przerostowa","PHO"]},"cs":{"name":"Primární hypertrofická osteoartopatie","synonyms":["Idiopatická hypertrofická osteoartropatie","PHOA"]},"uk":{"name":"Первинна гіпертрофічна остеоартропатія","synonyms":["Ідіопатична гіпертрофічна остеоартропатія","PHO"],"definition":"Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms)."},"zh":{"name":"原发性肥厚性骨关节病","synonyms":["特发性肥厚性骨关节病"],"definition":"原发性肥厚性骨关节病（PHO）是一种具有遗传异质性和临床表现异质性的遗传病，以指杵状指和骨关节病为特征，表现为厚皮症、前囟延迟闭合和先天性心脏病。PHO有两种类型：原发性骨膜病和颅骨关节病（见这些词条）。"},"tr":{"name":"Primer hipertrofik osteoartropati","synonyms":["PHO","İdiyopatik hipertrofik osteoartropati"]}},"xrefs":[{"source":"MONDO","code":"0016620","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16620","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[{"orpha":1525,"name":"Cranio-osteoarthropathy","type":"Malformation syndrome"},{"orpha":2796,"name":"Pachydermoperiostosis","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}