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Síndrome de Treacher-Collins

Definición:

Es una afección hereditaria que causa defectos faciales.

Nombres alternativos:

Disostosis mandibulofacial

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.

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