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Síndrome de Aarskog - Overview

Nombres alternativos

Síndrome facio-dígito-genital

Definición:

Es una enfermedad hereditaria que afecta la estatura, músculos, esqueleto, genitales y apariencia facial de una persona. Hereditaria significa que se transmite de padres a hijos.

Causas:

El síndrome de Aarskog es un trastorno genético que está ligado al cromosoma X. Afecta principalmente a los hombres, aunque las mujeres pueden tener una forma más leve. La afección es causada por cambios (mutaciones) en un gen llamado "displasia faciogenital" (FGDY1).

  • Reviewed last on: 5/17/2010
  • A.D.A.M. Editorial Team: David Zieve, MD, MHA, David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).
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