Company Profile
Cornelia de Lange Syndrome Foundation, Inc.
Company Overview
The Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS; promote research into the causes and manifestations of the syndrome; and help people with a diagnosis of CdLS make informed decisions throughout their lifetime.
The Foundation was founded in 1981 by parents of children with CdLS and interested medical professionals. Currently, the Foundation serves approximately 2,500 people with CdLS; 10,000 family members/caregivers; and 2,500 clinical professionals.
www.CdLSusa.org
Company History
• 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 most 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 to 70% display some degree of autism spectrum disorder. Upper extremity 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.
Benefits
Flexible hours.