Cornelia De Lange Syndrome is a rare genetic disorder also known as Amsterdam dwarfism or Bushy Syndrome. It is frequently evident at birth or in early infancy, with a variety of medical complications whose severity varies from person to person.
The Cornelia De Lange Syndrome is observed annually on the second Saturday of May, which will occur on May 13 this year. This day was not established until 1989 as a means of educating the public about this condition, its tests, and its diagnostics. It was also created to raise awareness about this genetic syndrome that is still relatively unknown. By spreading awareness about Cornelia De Lange Syndrome (CdLS), we hope to eliminate the stigma individuals and families face, and by increasing dialogue about the syndrome, we can provide more funding for its prevention and treatment.
Cornelia De Lange Syndrome is a rare genetic disorder also known as Amsterdam dwarfism or Bushy Syndrome. It is frequently evident at birth or in early infancy, with a variety of medical complications whose severity varies from person to person.
As early as 1916, Cornelia de Lange Syndrome was identified. People diagnosed with this condition display cognitive and physical traits and characteristics that are almost ‘autistic-like.’ Dr. Cornelia de Lange, a Dutch physician, was the first to characterise the symptoms in 1933. The syndrome is an autosomal dominant trait that may be caused by a defective gene. CdLS has a recurrence rate of 1% to 2% within affected families and affects approximately 1 in 10,000 births in the United States.
The symptoms of this condition are not the same for everyone; there are distinguishing characteristics, such as a small head size and a low body mass index relative to others of the same age. In addition to intellectual development delays, other system abnormalities such as prominent facial features, small extremities, dysplasia, feeding difficulties, seizures, and heart defects may be observed. Diagnosing classic cases of Cornelia de Lange syndrome is typically straightforward; however, due to the wide variety of symptoms, diagnosing mild cases can be challenging.
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Catharina de Lange was a paediatrician from the Netherlands, and the syndrome is named after her.
The condition affects nearly an equal number of men and women.
Individuals who have been diagnosed with Cornelia de Lange syndrome have a healthy lifespan.
It is estimated that one in 10,000 to 30,000 neonates are affected by the syndrome.
Patients have lengthy eyelashes and bushy or even unibrows.
| Year | Date | Day |
|---|---|---|
| 2022 | May 14 | Saturday |
| 2023 | May 13 | Saturday |
| 2024 | May 11 | Saturday |
| 2025 | May 10 | Saturday |
| 2026 | May 9 | Saturday |
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