May 10 (Punjab Khabarnama) : International Cornelia de Lange Syndrome (CdLS) Awareness Day 2024: Cornelia de Lange Syndrome is a genetic disorder that leads to distinctive facial deformities, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations. Often the disorder is not inherited from the parents but happens due to a genetic mutation. Usually, the affected child is born with Cornelia de Lange Syndrome. This is a rare disorder and can lead to discrimination and loneliness. Every year, International Cornelia de Lange Syndrome (CdLS) Awareness Day is observed to raise awareness about the problems and the challenges faced by the people affected with this disorder. As we gear up to celebrate the important day, here are a few things that we should keep in mind.
Date:
Every year, International Cornelia de Lange Syndrome (CdLS) Awareness Day is observed on the second Saturday of the month of May. This year, the important day falls on May 11.
History:
In the year 1916, Walter Brachman discovered the first case of Cornelia de Lange Syndrome. In 1933, a Dutch Pediatrician called Cornelia de Lange was responsible for describing the disorder. Hence, the illness came to be named after him. However, since Walter Brachman was the first one to discover the first documented case of the disorder, sometimes the illness is also referred to by the combination of both the names – Brachman Cornelia de Lange Syndrome.
Significance:
The best way to spend the day is by educating ourselves about the disorder and learning the challenges faced by people 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 the ones born with this disorder. We can help people have more access to treatment facilities and other services available. Doctors, NGOs and organisations can come together to improve treatment options for Cornelia de Lange Syndrome.
