U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details
Figure 2.

Figure 2.

Face

2a. Female age 2.5 years; square face, round eye, straight nose with broad nasal root, unilateral facial palsy

2b. Female age five years; mild expression of CHARGE facies; relatively square face, prominent columella of the nose. Note sloping shoulders.

2c. Male age seven years; square face, somewhat broad nasal root. Note prominent ear with unfolded helix and wide neck.

2d. Female age nine years; square face, round eyes, wide neck, sloping shoulders. Note lack of facial expression as a result of bilateral facial palsy.

2e. Male age 15 years. Note longer but still somewhat square face, wide neck with sloping shoulders.

2f. Female age 18 years; square, asymmetric face, prominent ears, head tilted back, wide neck, and sloping shoulders

From: CHD7 Disorder

Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2023 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Views

  • Cite this Page
  • PDF version of this page (1.4M)

Related information

  • MedGen
    Related information in MedGen
  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed
  • Gene
    Locus Links

Similar articles in PubMed

See reviews...See all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...