Cornelia de Lange Syndrome Awareness Day

National Cornelia de Lange Syndrome Awareness Day on the second Saturday of May each year is commemorated to shed light on this little-known, often misdiagnosed genetic syndrome.

Each year, parents, volunteers, and others request official Awareness Day statements from governors and local leaders; hang awareness-raising flyers in public places; giving presentations to groups of citizens or medical personnel; write for their local newspapers; and more. The CdLS Foundation encourages a variety of awareness-raising activities throughout the month of May on National CdLS Awareness Day.

What is Cornelia de Lange Syndrome Awareness Day?

Cornelia de Lange syndrome (CdLS) causes a wide range of physical, cognitive, and medical challenges. This is a genetic disorder that is not always diagnosed. Affecting children's physical and intellectual development, CdLS is often referred to as Dwarf Syndrome or Amsterdam Dwarfism. Cornelia de Lange Syndrome can lead to dangerous abnormalities affecting an estimated 1 in 10,000 to 30,000.

While this condition may be seen by the naked eye at birth, it often is undiagnosed without checking accurately. Some ultrasound tests can be done before birth. However, most testing takes place after birth. Part of the diagnostic process includes a careful examination of the infant. They will check the limbs, head and face as well as cleft lip, diaphragmatic hernia, congenital heart disease, and gastrointestinal abnormalities. For people with mild symptoms, genetic testing may be needed to determine if specific gene mutations of CdLS are affected.

A Dutch doctor named Cornelia de Lange who firstly described two patients with similar features and symptoms in 1933. She is considered one of the first doctors to document the condition associated features and symptoms.

Almost people with CdLS do not know they have gotten it. The aim of Cornelia de Lange Syndrome Awareness Day is to support more for research and forms of diagnosis. If you would like get more information on CdLS Days, let visit the CdLS Awareness Day website.

Cornelia De Lange syndrome brings a lot of challenges on many attributes of a person, not only medical health but also cognitive and physical. This disorder is often detected at birth and cannot be diagnosed right away, making it an extremely difficult syndrome to treat. Cornelia De Lange syndrome is also known as Amsterdam bush and dwarf syndrome and is shortened to CdLS. The syndrome can affect 1 in 10,000 to 30,000 people and can lead to abnormalities in a child's development. However, there are not many people realize about Cornelia De Lange syndrome and National Cornelia De Lange Syndrome Awareness Day are celebrated in order to raise awareness about this rare genetic disorder or syndrome.

Some interesting truths about this day

On National Cornelia De Lange Syndrome Awareness Day, let's first dive into some insight into Cornelia De Lange Syndrome, a developmental disorder that's difficult to diagnose before birth and one Genetic disorders are very rare.

• The syndrome occurs in 1 person per 30000 to 40000 births and is often not easily detected before birth.
• Problems with this disorder include growth problems, structural deformities, impaired growth, and behavioral difficulties. If it is not diagnosed on time, it can be volvulus in some cases.
• Ultrasound in the second and third trimesters of pregnancy can help detect this syndrome early. But the actual diagnosis of the syndrome is made after the child is born.
• CdLS causes a lot of dangerous effects in different circumstances.  Moreover, life expectancy is apparent.
• These conditions occur equally in both male and female children and affect the baby's postnatal and prenatal development. It can cause disability in intellection by the appearance in distinct facial.
• There are currently only supportive and symptomatic therapies for CdLS. There are also surgeries such as diaphragmatic hernia, heart defects, cleft palate that can be performed to help the affected person lead as normal a life as possible.
• The syndrome can also affect the brains of children and adults with the syndrome.

Cornelia de Lange Syndrome Awareness Day’s origin

The celebration or start date was first started in 1989 in an effort to raise awareness about this genetic disorder. However, we have no further information on whom or what triggered this date observation. But we know the history of how the name syndrome was born. Although the condition may have existed for many years, the first documented one was in 1933 by Dr. Cornelia De Lange. The syndrome is therefore named after her for her literature on patients with the condition.

Celebrating Cornelia de Lange Syndrome Awareness Day

Cornelia de Lange Syndrome Awareness Day is about raising awareness about Cornelia De Lange Syndrome among the masses. While the number of people affected by this disorder is quite low, the challenge is that the disorder is not recognizable in its early stages.

Please refer some interesting ways to celebrate Cornelia de Lange Syndrome Awareness Day and raise more awareness about this syndrome to the masses.

• On Cornelia de Lange Syndrome Awareness Day, if you know of anyone who is suffering from Cornelia De Lange Syndrome, let spend this day with them. In addition, you can spend Cornelia de Lange Syndrome Awareness Day to be remembered for them and post about it on your social media and other online sites.
• You can raise our awareness about Cornelia De Lange Syndrome by using your social media with hastag like #NationalCorneliaDeLangeSyndromeAwarenessDay.
• You can organize events like quizzes, quizzes, and other activities that can help people get more information about the disorder and how they can cope with it.
• Recognizing symptoms can occur even before a baby is born, but it's important to use the right testing method. In fact, many people suffer from this syndrome without themselves being aware that they are being affected.