Published 21:37 IST, May 10th 2024
Cornelia de Lange Syndrome results from a spontaneous genetic mutation and manifests in symptoms like feeding difficulties and psychomotor delays.
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International Cornelia de Lange Syndrome (CdLS) Awareness Day is observed annually to shed light on a rare genetic disorder characterized by distinctive facial features, growth delays, and various developmental challenges. This year, the observance falls on May 11, marking a significant day of advocacy and education.
Cornelia de Lange Syndrome results from a spontaneous genetic mutation and manifests in symptoms like feeding difficulties, psychomotor delays, behavioral issues, and associated physical malformations. Not typically inherited, CdLS can lead to feelings of isolation and discrimination for those affected.
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History of Cdls
The history of CdLS dates back to its first identification by Walter Brachman in 1916. However, it was Dutch pediatrician Cornelia de Lange who provided a detailed description in 1933, lending her name to the syndrome. Occasionally, the condition is also referred to as Brachman-Cornelia de Lange Syndrome, acknowledging both contributors to its discovery.
Raising awareness on International CdLS Awareness Day involves educating the public about the challenges faced by individuals with this condition and promoting research into its genetic origins. It’s a day to foster a deeper understanding of the syndrome, aiming to enhance the quality of life for those diagnosed by improving access to treatments and support services.
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Importance of CdlS day
Healthcare professionals, nonprofits, and various organizations play crucial roles in advancing treatment options and support mechanisms for those with CdLS. The collective effort on this day and beyond can lead to better care frameworks and increased support for affected families.
Engagement in International CdLS Awareness Day can be as simple as learning about the disorder, sharing information, and supporting initiatives that aid those impacted by CdLS. Through education and advocacy, this day helps bridge gaps in understanding and fosters a more inclusive environment for individuals with rare genetic disorders.
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21:37 IST, May 10th 2024