Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2007 Jun 15;143A(12):1287-96.
doi: 10.1002/ajmg.a.31757.

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance

Antonie D Kline  1 , Ian D Krantz, Annemarie Sommer, Mark Kliewer, Laird G Jackson, David R FitzPatrick, Alex V Levin, Angelo Selicorni
Affiliations
Review

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance

Antonie D Kline et al. Am J Med Genet A. .

Erratum in

  • Am J Med Genet A. 2008 Oct 15;146A(20):2713

Abstract

Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange syndrome, is a well-described multiple malformation syndrome typically involving proportionate small stature, developmental delay, specific facial features, major malformations (particularly the cardiac, gastrointestinal and musculoskeletal systems), and behavioral abnormalities. There is a broad spectrum of clinical involvement, with increasing recognition of a much milder phenotype than previously recognized. Significant progress has been made in recent years in the clinical and molecular delineation of CdLS, necessitating a revision of the diagnostic criteria, more inclusive of the milder cases. In addition, a scoring system of severity has been found to correlate with specific brain changes. Thus, a clinical overview and recommendations for anticipatory guidance are timely in aiding caretakers and professionals to individualize care decisions and maximize developmental potential for individuals with CdLS. These guidelines are derived from consensus based on collective experience of over 500 patients with CdLS, observations of the natural history in children, adolescents, and adults, a review of the literature, and contacts with national support organizations in North America and Europe.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

-