Cornelia de Lange Syndrome Awareness Day

Cornelia de Lange Syndrome Awareness Day is a global holiday dedicated to raising awareness of this genetic disorder (CdLS for short). It is often referred to in society as “Boucher syndrome” or “Amsterdam dwarfism.” The holiday is observed on the second Saturday in May and aims to bring attention to the disease.

History

The history of Cornelia de Lange Syndrome Awareness Day began in 1989, when it was first observed. The World Health Organization (WHO) and other medical organizations support the celebration of this day. CdLS is a genetically determined condition, typically diagnosed at birth.

The disease is named after Cornelia de Lange, a Dutch medical specialist who first described it in 1933. What do we know about the syndrome today? It manifests as a small head size and low birth weight in newborns. As the child develops, delays in both physical and mental development can be observed. Various abnormalities may also occur, including small hands and feet, seizures, and heart dysfunction. People with CdLS often face a challenging life, requiring constant medical attention.

Interesting Facts

• Approximately 1.5 out of every 10,000 newborns in the United States have CdLS.
• The exact cause of the disease is unknown, but more than half of the cases are associated with mutations in the NIPBL gene.
• Genetic defects can be triggered by factors such as pregnancy complications, chemical intoxication, exposure to carcinogenic substances, and advanced maternal age (after 35 years).

How to Celebrate

Learn more about CdLS on this day. Help raise funds for families who are seeking treatment for their children affected by the disease.

Spread awareness about the holiday on social media, and encourage more people to learn about it.

When is Cornelia de Lange Syndrome Awareness Day in 2025?

Cornelia de Lange Syndrome Awareness Day is observed on the second Saturday in May.

Observations