Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that can lead to distinctive facial deformities, growth deficiencies, and developmental delays. It is often caused by a mutation in the NIPBL gene, but can also be inherited from parents. This disorder can lead to discrimination and loneliness, which is why International Cornelia de Lange Syndrome (CdLS) Awareness Day is observed every year to raise awareness and understanding of the challenges faced by those affected by CdLS.
The first case of CdLS was discovered in 1916 by Walter Brachman. In 1933, a Dutch pediatrician named Cornelia de Lange described the disorder in more detail, and it was subsequently named after her. However, since Brachman was the first to discover the disorder, it is sometimes also referred to as Brachman Cornelia de Lange Syndrome.
The best way to spend CdLS Awareness Day is by educating ourselves about the disorder and learning about the challenges faced by those affected by it. We can also understand the genetic mutations that lead to this illness and come together to improve the quality of life for those born with CdLS. We can help people have more access to treatment facilities and other services available. Doctors, NGOs, and organizations can come together to improve treatment options for CdLS.
