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Síndrome de Russell-Silver - Overview

Nombres alternativos

Síndrome de Silver; Síndrome de Silver-Russell

Definición:

Es un trastorno congénito que involucra crecimiento deficiente, bajo peso al nacer, estatura baja y diferencias en el tamaño de los dos lados del cuerpo.

Causas, incidencia y factores de riesgo:

Un estimado del 7 al 10% de los pacientes con este síndrome tiene un defecto llamado disomía uniparental materna (UPD, por sus siglas en inglés) para el cromosoma 7. En otro 35% de los pacientes, hay una anomalía en el cromosoma 11 que afecta a genes importantes en el crecimiento. Sin embargo, en la mayoría de los pacientes no se puede identificar una causa. La mayoría de los casos ocurre en personas sin antecedentes familiares de la enfermedad.

El número estimado de personas que desarrolla esta enfermedad varía enormemente. Algunos dicen que afecta a aproximadamente a 1 de cada 3,000 personas, mientras que otros informes dicen que afecta a 1 de cada 100,000 personas. Los hombres y las mujeres se ven afectados por igual.

  • Reviewed last on: 12/1/2010
  • Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network.
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