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Síndrome de Treacher-Collins - Información general

Nombres alternativos

Disostosis mandibulofacial

Definición:

Es una afección hereditaria que causa defectos faciales.

Causas, incidencia y factores de riesgo:

El síndrome de Treacher-Collins es causado por una proteína defectuosa llamada treacle y es una afección que se hereda como un rasgo autosómico dominante. Se piensa que más de la mitad de todos los casos se debe a mutaciones nuevas porque no existen antecedentes familiares de la enfermedad.

Esta afección puede variar enormemente en severidad de una generación a otra.

  • Fecha de revisión: 7/2/2007
  • Versión en inglés revisada por:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.
  • Traducción y localización realizada por: DrTango, Inc
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