by tostheimer | Sep 27, 2018
Publications About CdLS From the earliest days, a hallmark service of the CdLS Foundation has been its range of materials for parents, professionals and the public. Filter By: All Types PDF E-book Reaching Out The Path Forward Articles Brochures All Topics Anesthesia...
by tostheimer | Oct 10, 2018
Characteristics of CdLS CdLS is not a “one size fits all” condition. An individual may have many of the following traits, or only a select few. Geneticists establish the diagnosis after evaluating all the criteria. Birth Weight, Growth and Head Size Children with CdLS...
by tostheimer | Oct 15, 2018
Know Your Genes CdLS Genes and What They Mean: NIPBL Individuals with classic findings of CdLS, including characteristic facial features and limb anomalies, are likely to have a change identified in the NIPBL gene. However, changes (or mutations) in NIPBL have been...
by tostheimer | Oct 5, 2018
Critical Care Since Foundation staff isn’t always accessible in an emergency, the following materials provide guidance to medical personnel during critical times. The information on this page is intended for emergency personnel, hospital staff and specialists in the...
by tostheimer | Oct 17, 2018
What is CdLS? What is Cornelia de Lange Syndrome (CdLS)? Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, usually not inherited. It is usually due to an acquired change (mutation) in one of seven important developmental genes at or shortly...
by tostheimer | Oct 15, 2018
Press Kit Welcome to the CdLS Foundation’s online press kit. This section contains information for media working on stories about CdLS. CdLS Quick Facts CdLS is a genetic syndrome present from birth. There is no cure for CdLS. CdLS occurs in approximately 1 in...
by tostheimer | Oct 15, 2018
Diagnosis of CdLS Currently, researchers find a gene change in about 75 percent of individuals with CdLS. A higher percentage may be identifiable as testing procedures become more sophisticated, and as additional genes are identified. What are the long-term...
by IMPACT Dev | Oct 11, 2018
Research Reviews The CdLS Foundation provides information on a range of research articles, most of which are accessible through PubMed, an online portal of research publications. Articles related to CdLS go back to the 1980s and are divided by topic. To access a...
by tostheimer | Oct 10, 2018
Management Guidelines Treatment Guidelines for Preventive Care The treatment guideline sheet highlights routine care for individuals with CdLS at different ages, including infancy, early and late childhood, adolescence and adulthood. View Guidelines Developmental...
by tostheimer | Oct 4, 2018
CdLS Foundation Research Grants 2005 Awards A Mouse Model of Cornelia de Lange Syndrome Principal Investigator: Arthur Lander, MD, PhD, University of California, Irvine, CA. Award: $10,000 The methods of genetic engineering have allowed us to introduce mutations...
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