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Síndrome de Ellis-van Creveld - Overview

Nombres alternativos

Displasia condroectodérmica; EVC

Definición:

Es un raro trastorno congénito que afecta el crecimiento de los huesos.

Causas:

El síndrome de Ellis van Creveld se transmite de padres a hijos (hereditario). Es causado por defectos en uno de los dos genes del síndrome de Ellis van Creveld (EVC y ECV2) que están cerca uno del otro.

La gravedad de la enfermedad varía de una persona a otra. La mayor tasa de esta afección se observa entre la población de la Vieja Orden Amish del condado Lancaster en Pensilvania y es bastante infrecuente en la población general.

  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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