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About National Cornelia de Lange Syndrome Awareness Day
United States
Ends: May 11, 2024
DESCRIPTION:
Cornelia de Lange Syndrome Awareness Day is observed each year on the second Saturday of May to shed light on this often misdiagnosed, little-known genetic syndrome.
First observed in 1989, CdLS is an opportunity to educate all about the syndrome.
CdLS is a genetic syndrome present from birth. There is no cure, and it occurs in approximately one in 10,000 live births and affects males and females equally, regardless of race.
The severity of CdLS ranges from mild to severe, but all individuals with CdLS share similar characteristics: 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 typical, and 60-70% display some degree of autism spectrum disorder. Speech and language are delayed or absent. Limb differences and missing limbs occur in 25% of cases. Common medical problems include gastroesophageal reflux disease, bowel abnormalities, heart defects, seizures, and cleft palate.
Changes in three different genes mark CdLS. These genes are NIPBL on chromosome five, SMC1A on the X chromosome, and SMC3 on chromosome ten. Changes in the latter two genes 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 20,000 individuals in the U.S. have CdLS but live without diagnosis and support services.
Content adapted from the Cornelia de Lange Syndrome website.
VIDEOS
SUPPORTING DOCUMENTS
Cornelia de Lange Syndrome Awareness Day Poster
ADDITIONAL IMAGES
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