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Se define como enfermedades poco frecuentes a aquellas cuya prevalencia en la poblaci\u00f3n es igual o inferior a 1 en 2.000 personas, referida a la situaci\u00f3n epidemiol\u00f3gica nacional. Su denominaci\u00f3n se relaciona no solo a los pocos casos reportados, sino tambi\u00e9n al desconocimiento de su fisiopatolog\u00eda, o a la falta de terap\u00e9utica para tratarlas. Tambi\u00e9n se conocen con el nombre de \u201cenfermedades orfanatas\u201d o \u201cenfermedades raras\u201d. Se calcula que existen, en la actualidad, m\u00e1s de 8000 enfermedades poco frecuentes diferentes.<\/p>\n
Los trastornos gen\u00e9ticos que afectan al esqueleto surgen por alteraciones gen\u00e9ticas, en el desarrollo, en la homeostasis metab\u00f3lica, o una combinaci\u00f3n de ellas, y siguen siendo un desaf\u00edo diagn\u00f3stico debido a su variedad. Hasta ahora se han descripto casi 400 formas diferentes de displasias esquel\u00e9ticas. Con los avances en gen\u00e9tica molecular, se ha hecho evidente que los fenotipos variables pueden ser causados \u200b\u200bpor mutaciones en un gen.<\/p>\n
A nivel internacional, la Fundaci\u00f3n Internacional de Osteoporosis (IOF) (https:\/\/www.iofbonehealth.org\/osteoporosis-musculoskeletal-disorders\/skeletal-rare-disorders<\/a>) estableci\u00f3 el Grupo de Trabajo de Enfermedades Raras Esquel\u00e9ticas, que tiene como objetivo difundir el conocimiento sobre enfermedades raras que afectan el metabolismo \u00f3seo.<\/p>\n A nivel nacional, la Asociaci\u00f3n Argentina de Osteolog\u00eda y Metabolismo Mineral (AAOMM) conform\u00f3 en 2020 un Grupo de Trabajo sobre Enfermedades \u00f3seas poco frecuentes (https:\/\/aaomm.org.ar\/enfermedades-oseas-poco-frecuentes\/<\/a>) con el objetivo de desarrollar proyectos de investigaci\u00f3n y actividades de formaci\u00f3n m\u00e9dica continua para profesionales y de difusi\u00f3n destinados a la comunidad en relaci\u00f3n a las enfermedades poco frecuentes que afectan al tejido esquel\u00e9tico. AAOMM organiz\u00f3 adem\u00e1s en el 2021 una Jornada de Enfermedades \u00f3seas poco frecuentes.<\/a><\/span><\/p>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\u00bb4.14.1″ _module_preset=\u00bbdefault\u00bb custom_padding=\u00bb2px||5px|||\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.14.1″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_image src=\u00bbhttp:\/\/reumatologiarosario.com.ar\/web\/wp-content\/uploads\/2021\/12\/HEADER-JORNADAS.png\u00bb title_text=\u00bbHEADER JORNADAS\u00bb url=\u00bbhttps:\/\/reumatologiarosario.com.ar\/web\/jornada-enfermedades-oseas-poco-frecuentes-aaomm\/\u00bb _builder_version=\u00bb4.14.1″ _module_preset=\u00bbdefault\u00bb hover_enabled=\u00bb0″ global_colors_info=\u00bb{}\u00bb sticky_enabled=\u00bb0″][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\u00bb4.14.1″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.14.1″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_text _builder_version=\u00bb4.14.1″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n Referencias<\/strong><\/p>\n Masi L, Ferrari S, Javaid MK, et al. <\/span>Bone fragility in patients affected by congenital diseases non skeletal in origin. Orphanet J Rare Dis 16, 11 (2021). LINK<\/a> [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ admin_label=\u00bbBlog\u00bb _builder_version=\u00bb3.22″ background_color=\u00bb#f1f5f7″ custom_margin=\u00bb|||\u00bb custom_padding=\u00bb100px|0|100px|0px|true|false\u00bb border_radii=\u00bb||15vw||\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row _builder_version=\u00bb3.25″ global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb3.25″ custom_padding=\u00bb|||\u00bb global_colors_info=\u00bb{}\u00bb custom_padding__hover=\u00bb|||\u00bb][et_pb_blog fullwidth=\u00bboff\u00bb posts_number=\u00bb6″ include_categories=\u00bb22″ show_author=\u00bboff\u00bb _builder_version=\u00bb4.14.1″ header_level=\u00bbh4″ header_font=\u00bbMontserrat||||||||\u00bb header_line_height=\u00bb1.5em\u00bb body_font=\u00bbMontserrat|300|||||||\u00bb body_font_size=\u00bb15px\u00bb body_line_height=\u00bb2em\u00bb meta_font=\u00bbMontserrat|300|||||||\u00bb pagination_font=\u00bbMontserrat||||||||\u00bb pagination_text_color=\u00bb#2f8cff\u00bb pagination_font_size=\u00bb16px\u00bb pagination_line_height=\u00bb2em\u00bb custom_padding=\u00bb||0px|||\u00bb border_radii=\u00bbon|25px|25px|25px|25px\u00bb border_width_all=\u00bb0px\u00bb box_shadow_style=\u00bbpreset3″ box_shadow_vertical=\u00bb30px\u00bb box_shadow_blur=\u00bb50px\u00bb box_shadow_spread=\u00bb-30px\u00bb box_shadow_color=\u00bbrgba(0,0,0,0.1)\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_blog][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" Enfermedades \u00f3seas poco frecuentes Se define como enfermedades poco frecuentes a aquellas cuya prevalencia en la poblaci\u00f3n es igual o inferior a 1 en 2.000 personas, referida a la situaci\u00f3n epidemiol\u00f3gica nacional. Su denominaci\u00f3n se relaciona no solo a los pocos casos reportados, sino tambi\u00e9n al desconocimiento de su fisiopatolog\u00eda, o a la falta de […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-595","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/pages\/595","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/comments?post=595"}],"version-history":[{"count":10,"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/pages\/595\/revisions"}],"predecessor-version":[{"id":1026,"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/pages\/595\/revisions\/1026"}],"wp:attachment":[{"href":"https:\/\/reumatologiarosario.com.ar\/web\/wp-json\/wp\/v2\/media?parent=595"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Masi L, Agnusdei D, Bilezikian J, et al. and the Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation. Taxonomy of rare genetic metabolic bone disorders. Osteoporosis In, 26; 2529\u20132558 (2015). LINK<\/a><\/span><\/p>\n