Cornelia de Lange Syndrome Awareness Day is a worldwide holiday dedicated to this genetic disease (CdLS for short). In society, it is often referred to as “Boucher syndrome” or “Amsterdam dwarfism. The holiday is celebrated every second Saturday in May. It aims to raise awareness of the disease.
The history of the holiday begins in 1989, when it was first observed. The celebration of this day is supported by the WHO and other medical organizations. CdLS syndrome is genetically determined and is detected as soon as a person is born.
The disease is named after Cornelia de Lange, a Dutch medical specialist who first described the disease in 1933. What is known about the syndrome today? It manifests itself in the small size of the newborn’s head and underweight. During the development of the child, developmental delays can be observed: both physically and mentally. Also recorded various abnormalities: small hands and feet, seizures, heart dysfunction, and so on. The life of such a person is difficult and requires constant medical monitoring.
- Approximately 1.5% of every 10,000 newborns in the United States have Amsteroid dwarfism.
- The exact cause of the disease has not been determined, but more than half of the cases are associated with damage to the NIPBL gene.
- Genetic defects can be provoked by: pregnancy disorders, intoxication of the body with chemicals, exposure to carcinogenic and other dangerous factors, and late pregnancy (after 35 years).
How to celebrate
Learn more about CdLS this day. Help raise money for families who are raising money to treat their children with the disease.
Spread the word about the holiday on social media. Let more users know about it.
When is Cornelia de Lange Syndrome Awareness Day celebrated in 2023?
Cornelia de Lange Syndrome Awareness Day is observed the second Saturday in May.