Skip to main content

Advertising Disclaimer »

Main menu

  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors
    • Submit Manuscript
    • Author Guidelines
  • Content
    • Current Issue
    • Complete Issue PDF
    • Archive
    • Topic/Program Collections
    • Blog
  • Multimedia
    • Teaching Slides
    • Pediatrics On Call Podcast
  • CME/MOC
    • CME Quizzes
    • MOC Claiming
  • Subscribe
  • Alerts
  • Careers
  • Other Publications
    • American Academy of Pediatrics

User menu

  • Log in
  • My Cart

Search

  • Advanced search
American Academy of Pediatrics

AAP Gateway

Advanced Search

AAP Logo

  • Log in
  • My Cart
  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors
    • Submit Manuscript
    • Author Guidelines
  • Content
    • Current Issue
    • Complete Issue PDF
    • Archive
    • Topic/Program Collections
    • Blog
  • Multimedia
    • Teaching Slides
    • Pediatrics On Call Podcast
  • CME/MOC
    • CME Quizzes
    • MOC Claiming
  • Subscribe
  • Alerts
  • Careers
American Academy of Pediatrics
In Brief

CHARGE Syndrome

Alexandra Hudson, Carrie-Lee Trider and Kim Blake
Pediatrics in Review January 2017, 38 (1) 56-59; DOI: https://doi.org/10.1542/pir.2016-0050
Alexandra Hudson
*Dalhousie University School of Medicine, Halifax, Nova Scotia, Canada.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Carrie-Lee Trider
†Queen’s University School of Medicine, Kingston, Ontario, Canada.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kim Blake
*Dalhousie University School of Medicine, Halifax, Nova Scotia, Canada.
‡IWK Health Centre, Nova Scotia, Canada.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • Info & Metrics
  • Comments
Loading

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

Download PDF
  1. Alexandra Hudson, HBSc*
  2. Carrie-Lee Trider, MD†
  3. Kim Blake, MB, FRCPC*,‡
  1. *Dalhousie University School of Medicine, Halifax, Nova Scotia, Canada.
  2. †Queen’s University School of Medicine, Kingston, Ontario, Canada.
  3. ‡IWK Health Centre, Nova Scotia, Canada.

Suggested Reading

  1. Clinical Utility Gene Card for CHARGE Syndrome - Update 2015. van Ravenswaaij-Arts CMA, Blake K, Hoefsloot L, Verloes A. Eur J Hum Genet. 2015;23(11)
  2. CHARGE Syndrome: A Review. Hsu P, Ma A, Wilson M, et al. J Paediatr Child Health. 2014;50(7):504–511
    OpenUrlCrossRefPubMed
  3. CHARGE Syndrome. Blake KD, Prasad C. Orphanet J Rare Dis. 2006;7(1):34
    OpenUrl
  4. Postoperative Airway Events of Individuals with CHARGE Syndrome. Blake K, MacCuspie J, Hartshorne TS, Roy M, Davenport SL, Corsten G. Int J Pediatr Otorhinolaryngol. 2009;73(2):219–226
    OpenUrlPubMed
  5. Quality of Life in Adolescents and Adults with CHARGE Syndrome. Hartshorne N, Hudson A, MacCuspie J, et al. Am J Med Genet A. 2016;170(8):2012–2021
    OpenUrl
  • AUTHOR DISCLOSURE

    Ms Hudson, Dr Trider, and Dr Blake have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

CHARGE syndrome (CS) is an autosomal dominant genetic condition caused by a mutation in the CHD7 gene. The incidence is approximately 1 in 10,000 to 15,000 live births. Most cases result from de novo mutations on the q12 arm of chromosome 8, which interfere with neural crest cell migration and embryogenesis. The parent of a child with a de novo mutation causing CS has a recurrence risk of approximately 1% to 3% for future pregnancies. However, if the disease-causing mutation of the proband is found in a parent, depending upon whether in a mosaic or nonmosaic form, the recurrence risk may be increased up to 50%, and subsequent pregnancies can be screened genetically and with fetal ultrasonography and/or magnetic resonance imaging.

CS remains a predominantly clinical diagnosis that can be confirmed with genetic testing. Physical features are highly variable and include those represented by the CHARGE mnemonic: Coloboma ocular, Heart defects, Atresia or stenosis of the choanae, Retardation of growth and/or development, Genitourinary anomalies, and Ear abnormalities. However, the mnemonic does not include all of the major diagnostic criteria. Central nervous system findings are important clues to the diagnosis, with more than 90% of affected individuals having cranial nerve (CN) dysfunction. Many individuals have more than 1 dysfunctional cranial nerve, manifesting as an absent or reduced sense of smell (CN I), weak chewing/swallowing (CN V), facial palsy (CN VII) (Fig 1), sensorineural hearing loss (CN VIII), balance vestibular problems (CN VIII), and swallowing problems (CN IX, X). Visual and hearing impairments as well as intellectual disabilities are prevalent and can range …

Individual Login

Log in
You will be redirected to aap.org to login or to create your account.

Institutional Login

via Institution

You may be able to gain access using your login credentials for your institution. Contact your librarian or administrator if you do not have a username and password.

Log in through your institution

If your organization uses OpenAthens, you can log in using your OpenAthens username and password. To check if your institution is supported, please see this list. Contact your library for more details.

Purchase access

You may purchase access to this article. This will require you to create an account if you don't already have one.

Offer Reprints

PreviousNext
Back to top

Advertising Disclaimer »

In this issue

Pediatrics in Review: 38 (1)
Pediatrics in Review
Vol. 38, Issue 1
1 Jan 2017
  • Table of Contents
  • Table of Contents (PDF)
  • About the Cover
  • Index by author
  • Complete Issue (PDF)
View this article with LENS
PreviousNext
Email Article

Thank you for your interest in spreading the word on American Academy of Pediatrics.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
CHARGE Syndrome
(Your Name) has sent you a message from American Academy of Pediatrics
(Your Name) thought you would like to see the American Academy of Pediatrics web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Request Permissions
Article Alerts
Log in
You will be redirected to aap.org to login or to create your account.
Or Sign In to Email Alerts with your Email Address
Citation Tools
CHARGE Syndrome
Alexandra Hudson, Carrie-Lee Trider, Kim Blake
Pediatrics in Review Jan 2017, 38 (1) 56-59; DOI: 10.1542/pir.2016-0050

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
CHARGE Syndrome
Alexandra Hudson, Carrie-Lee Trider, Kim Blake
Pediatrics in Review Jan 2017, 38 (1) 56-59; DOI: 10.1542/pir.2016-0050
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Print
Download PDF
Insight Alerts
  • Table of Contents

Jump to section

  • Article
    • Suggested Reading
  • Figures & Data
  • Info & Metrics
  • Comments

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • Occult Spinal Dysraphism
  • Galactosemia
  • Why I Edit In Brief
Show more In Brief

Similar Articles

Subjects

  • Genetics
    • Genetics
  • Fetus/Newborn Infant
    • Fetus/Newborn Infant
  • Journal Info
  • Editorial Board
  • ABP Content Specifications Map
  • Overview
  • Licensing Information
  • Authors
  • Author Guidelines
  • Submit My Manuscript
  • Librarians
  • Institutional Subscriptions
  • Usage Stats
  • Support
  • Contact Us
  • Subscribe
  • Resources
  • Media Kit
  • About
  • International Access
  • Terms of Use
  • Privacy Statement
  • FAQ
  • AAP.org
  • shopAAP
  • Follow American Academy of Pediatrics on Instagram
  • Visit American Academy of Pediatrics on Facebook
  • Follow American Academy of Pediatrics on Twitter
  • Follow American Academy of Pediatrics on Youtube
American Academy of Pediatrics

© 2021 American Academy of Pediatrics