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Síndrome de Waardenburg - Overview

Nombres alternativos

Síndrome de Klein-Waardenburg; Síndrome de Waardenburg-Shah

Definición:

Es un grupo de afecciones hereditarias que involucran sordera y piel, cabello y ojos de color claro.

Causas:

El síndrome de Waardenburg se hereda como un rasgo autosómico dominante, lo cual significa que sólo uno de los padres tiene que transmitirle el gen defectuoso para que su hijo resulte afectado.

Existen cuatro tipos principales de este síndrome y los más comunes son el tipo I y el tipo II.

El tipo III (síndrome de Klein-Waardenburg) y el tipo IV (síndrome de Waandenburg-Shah) son menos comunes.

Los múltiples tipos de este síndrome resultan de defectos en diferentes genes. La mayoría de las personas con esta enfermedad tiene uno de los padres que la padece, pero los síntomas en el padre pueden ser muy diferentes de los del hijo.

  • Reviewed last on: 8/4/2011
  • 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. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Morelli JG. Hypopigmented Lesions. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 652.

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