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La acondroplasia es una condición genética que afecta el sistema esquelético, presentando una serie de síntomas notables, como la baja estatura, cabeza grande, caja toráxica pequeña, alteraciones faciales, extremidades más cortas, manos pequeñas y tono muscular reducido.
Esta patología no solo se manifiesta físicamente, sino que también implica complicaciones de salud como problemas respiratorios, otitis frecuentes, calambres y dolor crónico. Además, los pacientes pueden experimentar apneas del sueño, piernas arqueadas que pueden requerir cirugías, e incluso la obesidad.
La acondroplasia es causada por una mutación genética en el receptor del factor de crecimiento fibroblástico 3 (FGFR3). Esta mutación provoca una alteración en el desarrollo de los huesos y cartílagos, lo que lleva a la baja estatura y otras características físicas asociadas.
Además de los rasgos físicos, las personas con acondroplasia pueden enfrentar problemas de salud, como complicaciones respiratorias, otitis frecuentes, deformidades de la columna vertebral, dificultades en las articulaciones y en la movilidad, así comoun riesgo ligeramente aumentado de obesidad . La acondroplasia no afecta la inteligencia ni la esperanza de vida de las personas que la padecen.
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El diagnóstico de la acondroplasia se suele realizar a través de pruebas genéticas que identifican la mutación en el gen FGFR3. El tratamiento puede incluir abordajes médicos y quirúrgicos para manejar las complicaciones asociadas a esta condición y mejorar la calidad de vida de las personas afectadas.
Cabe mencionar que la acondroplasia presenta desafíos significativos, como lo señala la Dra. Giselle Gordillo González, médica especialista en genética. Los pacientes pueden experimentar limitaciones en el movimiento debido a la variación en el rango de articulaciones, alteraciones en la columna vertebral y dificultades en las actividades diarias, como peinarse, atarse los zapatos y el aseo personal.
En Colombia, la Ley 1275 de 2009 reconoce a las personas con acondroplasia como individuos con discapacidades y, como tal, merecen una protección especial y la implementación de instrumentos que les permitan participar de manera equitativa en todos los aspectos de la vida. Esta medida ha sido respaldada por Wendy Gaviria, directora de la Fundación Pequeñas Personas Latinas, quien destaca la importancia de empoderar a las personas de talla baja y sus familias en la lucha por sus derechos.
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