Holoprosencephaly Overview

Review
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of holoprosencephaly;

  2. 2

    Review the genetic causes of holoprosencephaly;

  3. 3

    Provide an evaluation strategy to identify (when possible) the genetic cause of holoprosencephaly in a proband;

  4. 4

    Inform genetic counseling of family members of an individual with holoprosencephaly.

Publication types

  • Review