Cornelia De Lange Syndrome Awareness Day – May 11, 2024

History
Timeline
FAQs
Importance
Observe

Cornelia De Lange Syndrome is celebrated on the second Saturday of May every year and this year it will be marked on May 11. This day was not observed until 1989 when it was established as a means to educate society about this condition, the tests, and the diagnostics. It was also set up in order to create awareness about this still not so known genetic syndrome. By letting others know about Cornelia De Lange Syndrome Awareness (CdLS), we hope to eliminate the stigma individuals and families have to endure and with more people having a dialogue about the syndrome, more support can go into the research for its prevention and treatment.

History of Cornelia De Lange Syndrome Awareness Day

Cornelia De Lange Syndrome is a rare genetic disorder commonly known as Bushy Syndrome or Amsterdam dwarfism. It is often apparent at birth or early childhood, with a range of medical challenges that may vary in severity from person to person.

Findings of Cornelia de Lange Syndrome date as far back as 1916. People diagnosed with this condition exhibit cognitive and physical traits and characteristics described as almost ‘autistic-like.’ In 1933, a Dutch physician Dr. Cornelia de Lange was the first to describe the symptoms. The syndrome is an inherited autosomal dominant condition that may be caused by an abnormal gene. CdLS has a recurrence rate of 1—2 % within affected families and occurs in approximately one in every 10,000 live births in The U.S.

The symptoms of this condition are not the same for everyone, there are characteristics to look out for such as small head size and below-average weight when compared to others in that age group. Intellectual development delays amongst other system abnormalities like prominent facial features, small limbs, dysplasia, feeding difficulties, seizures, heart defects, and so on may also be observed. Diagnosing classic cases of Cornelia de Lange syndrome is often straight to the point; however, diagnosing mild cases may prove difficult, due to the vast range of symptoms.

Cornelia De Lange Syndrome Awareness Day timeline

1916

The Symptoms are Found

The findings of the symptoms are initially reported by Brachmann.

1933

The Syndrome is Named

The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange.

1989

The Date is Set

The observance day for CdLS is founded.

2006

Celebrating Forty Years

The CdLs Foundation marks its 40-year anniversary.

Cornelia De Lange Syndrome Awareness Day FAQs

How is CdLS diagnosed?

The diagnosis requires a clinical diagnostic assessment as well as genetic testing.

What causes CdLS?

Different gene mutations lead to CdLS. It can either be inherited in an autosomal dominant or X-linked manner.

How is CdLS treated?

This ailment affects many different body parts, and medical management is often provided by a team of doctors and other healthcare professionals. The treatment needed could be surgical or therapeutic depending on the affected body part.

How to Observe Cornelia De Lange Syndrome Awareness Day

Host a Fundraiser
You can show your support to individuals with CdLS by hosting your local fundraisers. A huge part of the budget that goes into treatment and research is generated from events and grants.
Raise Awareness
You can educate the people around you and in your society about CdLS. Choose to do this via social media campaigns or by making public service announcements.
Learn more
Teach yourself more about CdLS by reading up on the current research trends and information on current clinical trials posted on the Internet. If you are a health specialist keep in the loop of new prevention and treatment methods.

5 Intriguing Facts About CdLS

It is named after a woman
Catharina de Lange was a Dutch pediatrician, and the syndrome is named after her.
It is not gender-specific
The condition affects almost an equal amount of males and females.
Life expectancy is relatively normal
People who have been diagnosed with Cornelia de Lange syndrome live well into adulthood.
It is pretty rare
The syndrome likely affects one in 10,000 to 30,000 newborns.
It is popularly known as Bushy syndrome
Patients have long eyelashes, bushy eyebrows, or even unibrows.

Why Cornelia De Lange Syndrome Awareness Day is Important

It raises awareness
The more people are talking about and observing this day, the more understanding of the disability. Dialogue is so important in today’s society and this day is dedicated to starting and growing one.
It encourages research
The funds generated from campaigns hosted on this day are essential. These funds serve as facilitators for efforts to advance research and improve care for people who have been diagnosed with CdLS.
It promotes Inclusion
There is still not enough information and knowledge about CdLS, because of this, families affected may feel lonely. We believe this awareness day is a wonderful opportunity for families going through similar challenges to connect and come together and share stories, resources, and information.