CORNELIA DE LANGE SYNDROME AWARENESS DAY
About National Cornelia de Lange Syndrome Awareness Day
Cornelia de Lange Syndrome Awareness Day is observed the second Saturday of May each year in order to shed light on this often misdiagnosed, little-known genetic syndrome.
First celebrated in 1989 CdLS is an opportunity to educate all segments of the population about the syndrome.
Each year, parents, volunteers and others request official Awareness Day proclamations from governors and local leaders; hang awareness fliers in public places; make presentations to civic groups or health workers; write their local newspapers; and much more.
Materials are available. See contact information below (you must be logged in to see contact info).
Cornelia de Lange Syndrome, What it is.
CdLS is a genetic syndrome present from birth. There is no cure.
CdLS occurs in approximately 1 in 10,000 live births. It affects males and females equally, and is seen in all races.
The severity of CdLS ranges from mild to severe, but all individuals with CdLS share similar characteristics, such as small stature, hands, feet, and head; joined eyebrows; long eyelashes; upturned nose; and thin, downturned lips.
Physical and cognitive development is delayed. Self-injurious behavior is common, and between 60-70% display some degree of autism spectrum disorder. Speech and language are delayed or absent. Limb differences and/or missing limbs occur in 25% of cases. Common medical problems include gastroesophageal reflux disease, bowel abnormalities, heart defects, seizures, and cleft palate.
Since 2004, changes in three different genes have been identified as causing CdLS. These genes are NIPBL on chromosome 5; SMC1A on the X chromosome; and SMC3 on chromosome 10. Changes in the latter two genes seem to correlate with a milder form of the syndrome.
In 99% of cases, the gene change that causes CdLS is sporadic, not inherited, which means the change occurs randomly during conception.
Researchers estimate there are 20,000 individuals in the U.S. who have CdLS but live without diagnosis and/or support services.
First celebrated in 1989 CdLS is an opportunity to educate all segments of the population about the syndrome.
Each year, parents, volunteers and others request official Awareness Day proclamations from governors and local leaders; hang awareness fliers in public places; make presentations to civic groups or health workers; write their local newspapers; and much more.
Materials are available. See contact information below (you must be logged in to see contact info).
Cornelia de Lange Syndrome, What it is.
CdLS is a genetic syndrome present from birth. There is no cure.
CdLS occurs in approximately 1 in 10,000 live births. It affects males and females equally, and is seen in all races.
The severity of CdLS ranges from mild to severe, but all individuals with CdLS share similar characteristics, such as small stature, hands, feet, and head; joined eyebrows; long eyelashes; upturned nose; and thin, downturned lips.
Physical and cognitive development is delayed. Self-injurious behavior is common, and between 60-70% display some degree of autism spectrum disorder. Speech and language are delayed or absent. Limb differences and/or missing limbs occur in 25% of cases. Common medical problems include gastroesophageal reflux disease, bowel abnormalities, heart defects, seizures, and cleft palate.
Since 2004, changes in three different genes have been identified as causing CdLS. These genes are NIPBL on chromosome 5; SMC1A on the X chromosome; and SMC3 on chromosome 10. Changes in the latter two genes seem to correlate with a milder form of the syndrome.
In 99% of cases, the gene change that causes CdLS is sporadic, not inherited, which means the change occurs randomly during conception.
Researchers estimate there are 20,000 individuals in the U.S. who have CdLS but live without diagnosis and/or support services.
PROMOTIONAL DETAILS
Event Sponsor:
Cornelia de Lange Syndrome Foundation
Videos
Downloads
Cornelia de Lange Syndrome Awareness Day Flyer
