{"id":35123,"date":"2020-07-05T09:18:48","date_gmt":"2020-07-05T13:48:48","guid":{"rendered":"https:\/\/seryhumano.com\/web\/?p=35123"},"modified":"2020-07-05T09:18:59","modified_gmt":"2020-07-05T13:48:59","slug":"sindrome-de-rubinstein-taybi-o-sindrome-de-los-pulgares-anchos","status":"publish","type":"post","link":"https:\/\/seryhumano.com\/web\/?p=35123","title":{"rendered":"S\u00edndrome de Rubinstein-Taybi o \u201cs\u00edndrome de los pulgares anchos\u201d"},"content":{"rendered":"\n

La fecha ha sido elegida por recordarse ese d\u00eda el fallecimiento del Dr. Rubinstein, acaecido en 2006.<\/h2>\n\n\n\n
\"S\u00edndrome<\/figure><\/div>\n\n\n\n

El 3 de julio se celebra el D\u00eda Internacional del S\u00edndrome de Rubinstein-Taybi (SRT), descubierto en 1963 por el pediatra Jack Rubinstein y el radi\u00f3logo Hooshang Taybi, ambos norteamericanos.<\/p>\n\n\n\n

La fecha ha sido elegida por recordarse ese d\u00eda el fallecimiento del Dr. Rubinstein, acaecido en 2006.<\/p>\n\n\n\n

A pesar de que inicialmente se denomin\u00f3 \u201cs\u00edndrome de los pulgares anchos<\/em>\u201d, posteriormente se cambi\u00f3 a \u201cs\u00edndrome de Rubinstein-Taybi<\/strong>\u201d en reconocimiento a estos dos m\u00e9dicos.<\/p>\n\n\n\n

El s\u00edndrome de Rubinstein-Taybi se caracteriza por talla baja, microcefalia (cabeza peque\u00f1a), rasgos faciales particulares, primer dedo de manos y pies anchos y en ocasiones angulados y grado variable de retraso del desarrollo psicomotor.<\/p>\n\n\n\n

En algunos casos, se pueden asociar problemas gastrointestinales (reflujo gastro-esof\u00e1gico), anomal\u00edas cardiacas, renales y problemas de visi\u00f3n, aunque no todas las personas afectadas presentan el conjunto de problemas.<\/p>\n\n\n\n

Causas<\/strong><\/h2>\n\n\n\n

El SRT (como tambi\u00e9n suele llamarse) es un trastorno gen\u00e9tico, habitualmente espor\u00e1dico (es decir, \u00fanico en la familia), debido a cambios o mutaciones en distintos genes que juegan un papel importante en el desarrollo de diferentes \u00f3rganos y sistemas.<\/p>\n\n\n\n

Se han identificado dos genes causantes del SRT: el CBP o gen de la prote\u00edna de uni\u00f3n a CREB (50% de casos de SRT) y el gen EP300 (3% de los casos).<\/p>\n\n\n\n

Esto quiere decir que en cerca de la mitad de casos de SRT (47%) no se logra identificar su causa, por lo que debe existir otro u otros genes a\u00fan por descubrir.<\/p>\n\n\n\n

Estos cambios en el gen se producen de forma espont\u00e1nea, y no se ha encontrado ninguna relaci\u00f3n directa entre el s\u00edndrome y posibles problemas en el embarazo, o cualquier otra raz\u00f3n que haga pensar que los padres hicieron algo mal.<\/p>\n\n\n\n

Incidencia<\/strong><\/h2>\n\n\n\n

Es dif\u00edcil conocer con seguridad la incidencia de este s\u00edndrome, ya que muchos casos pueden estar sin identificar o mal diagnosticados, pero su frecuencia se estima en alrededor de 1 caso por cada 100.000 o 125.000 nacimientos. Ocurre tanto en mujeres como en hombres y afecta a todas las razas.<\/p>\n\n\n\n

Objetivos del D\u00eda Internacional<\/strong><\/h2>\n\n\n\n

Con esta iniciativa, la Asociaci\u00f3n Espa\u00f1ola para el S\u00edndrome de Rubinstein-Taybi (AESRT) se une a otras similares de todo el mundo para difundir informaci\u00f3n sobre este s\u00edndrome, ya que es desconocido para la mayor\u00eda de la gente, incluyendo para muchos de los m\u00e9dicos y personal sanitario, quienes son los primeros capacitados para ayudar a hacer el diagn\u00f3stico.<\/p>\n\n\n\n

La AESRT trabaja para que el conocimiento y experiencia que existe a nivel mundial sobre el SRT se extienda todo lo posible. A pesar de que existen unas pautas internacionales de seguimiento m\u00e9dico, y es posible la realizaci\u00f3n de pruebas gen\u00e9ticas, a menudo las familias se sienten desasistidas y sin saber a d\u00f3nde acudir.<\/p>\n\n\n\n

En este sentido, la Asociaci\u00f3n entiende que ser\u00eda muy \u00fatil contar con centros de referencia con especialistas familiarizados con este s\u00edndrome, que coordinen el seguimiento m\u00e9dico, las pruebas gen\u00e9ticas y la atenci\u00f3n a la familia en futuras gestaciones. La existencia de un D\u00eda Mundial sobre el SRT debe ser \u00fatil para estos objetivos, y beneficiar\u00e1 a muchos de los ni\u00f1os afectados y a sus familias.<\/p>\n\n\n\n

serhumano.com \/ rubinsteintaybi.es<\/p>\n\n\n\n

Si quiere recibir en su celular esta y otras informaciones y art\u00edculos descargue Telegram, ingrese al link htts:\/\/t.ime\/seryhumano <\/a>y dele clic a +Unirme<\/p>\n","protected":false},"excerpt":{"rendered":"

La fecha ha sido elegida por recordarse ese d\u00eda el fallecimiento del Dr. Rubinstein, acaecido en 2006. El 3 de julio se celebra el D\u00eda Internacional del S\u00edndrome de Rubinstein-Taybi (SRT), descubierto en 1963 por el pediatra Jack Rubinstein y el radi\u00f3logo Hooshang Taybi, ambos norteamericanos. La fecha ha sido elegida por recordarse ese d\u00eda…<\/p>\n","protected":false},"author":305,"featured_media":35124,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[120],"tags":[],"class_list":["post-35123","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ser-saludable","category-120","description-off"],"yoast_head":"\nS\u00edndrome de Rubinstein-Taybi o \u201cs\u00edndrome de los pulgares anchos\u201d<\/title>\n<meta name=\"description\" content=\"S\u00edndrome de Rubinstein-Taybi o \u201cs\u00edndrome de los pulgares anchos\u201d. 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