Cornelia de Lange Syndrome Awareness Day takes place on May 11 each year.

Today we are going to talk about a rare disease called Cornelia de Lange Syndrome. On May 11, we observe Cornelia de Lange Syndrome Awareness Day.

The Importance of Raising Awareness

As you may have noticed, diseases and cancers with the most public awareness receive the most publicity, funding and research. Take breast cancer for example. The pink awareness ribbon is one of the most recognized awareness ribbons out there. Breast cancer fundraisers and events have led to research breakthroughs over the years.

Another example is the Ice Bucket Challenge for ALS. The Ice Bucket Challenge was a viral meme that made the rounds through social media in 2014. It was an awareness campaign where people participated by making their own videos. Participants would begin the video by explaining that it was for ALS. They would then nominate three people to do the challenge. Finally, they would get a bucket of ice water dumped over their head. In 2016, it was reported that the Ice Bucket Challenge helped scientists identify a gene associated with ALS.

All in all, the Ice Bucket Challenge raised $115 million dollars for ALS. The Ice Bucket challenge received criticism for being a trendy way to appear socially conscious. Digital activism with minimal work or commitment is called slacktivism. Critics focused on the dangers of slacktivism instead of the fundraising results. The skeptics were proven wrong only two years later.

This demonstrates how powerful awareness can be for a disease, and why raising awareness for all rare diseases is so crucial to progress.

What is Cornelia de Lange Syndrome?

Cornelia de Lange Syndrome is a rare genetic disorder. CdLS is most often diagnosed after birth. It can sometimes be diagnosed through an ultrasound during pregnancy. CdLS carries many distinctive physical features, associated developmental delays, and intellectual disabilities. CdLS varies from patient to patient. Some people with CdLS may have most of the characteristics of the disease, while others may only have a few. Severity of each symptom is also variable.

What Causes Cornelia de Lange Syndrome?

While CdLS can be genetic, the majority of cases are due to a gene mutation that is not inherited. There are five different genes that are associated with Cornelia de Lange Syndrome. In 60% of the cases, the cause can be traced to the NIPBL gene. The remaining 40% may be traced to different genes. CdLS does not seem to affect one sex more than the other. Both girls and boys are affected.

There are two ways that CdLS can be inherited. It can be an autosomal dominant condition, which means that you can develop the condition even if only one parent has the gene. The other way is as an x-linked condition, which means that it gets passed down through the X chromosome. Cornelia de Lange Syndrome is a rare disease, and affects about 1 in every 10,000 babies born. Because it can be inherited, there are families that may have more than one child born with CdLS.

What are the Symptoms of Cornelia de Lange Syndrome?

First, let’s talk about the physical symptoms. As I mentioned above, most CdLS patients are diagnosed as babies. Babies with CdLS often exhibit growth and developmental delays. This can affect their height and weight. It can also be severe enough to be considered failure to thrive. Children with the syndrome are usually smaller than other children their age. They also have certain smaller features. The most noticeable physical symptoms are those that appear on the head and face or limbs.

Cornelia de Lange Syndrome may cause many craniofacial abnormalities. There is also “a look” associated with kids with CdLS. These characteristics include a small or short head and upturned nose. They may also have rounded eyebrows that usually grow together. Other features include a short, wide neck and a very low hairline. There are less distinctive physical attributes associated with CdLS, too. An underdeveloped jaw, excessive hair growth, and cleft palate may all occur.

Physical Abnormalities

There are other physical abnormalities that occur with CdLS. Many symptoms affect the arms, legs, fingers, and toes. The most common of these abnormalities are small hands and feet in proportion to the rest of the body. Limbs may not develop fully on one or both sides. Severe, but rare, instances of this can mean that hands or forearms do not grow at all. Fingers that taper towards the end, abnormally positioned thumbs, missing fingers and curved pinky fingers are also symptoms of Cornelia de Lange Syndrome.

CdLS can also cause problems in the stomach and intestines. For example, it can cause abnormal intestinal twisting. This can be severe enough to cause a full obstruction. Intestinal obstruction can be fatal if not treated. Sometimes the esophagus and lining of the esophagus are affected. This can cause inflammation and a narrowing towards the stomach. This causes difficulty eating or keeping food down. A similar narrowing can also develop where the stomach connects to the small intestines. This can be serious when eating and digestion are affected. Malnutrition can occur when there are problems with the gastrointestinal tract. This can be even more dangerous because kids with CdLS tend to be small and weigh less.

Kids with CdLS may also suffer from cardiovascular, respiratory, and autonomic nervous system issues. Some heart abnormalities are associated with the syndrome. Chronic respiratory infections are common, as well. It is important for kids with CdLS to avoid the flu because of their higher risk for complications. The autonomic nervous system controls the automatic functions of the body. This includes everything from breathing to sleeping. With autonomic nervous system dysfunction, the brain may not control automatic functions well. In CdLS, this may mean seizures or nystagmus (uncontrollable movements of the eye).

Intellectual Signs and Symptoms of Cornelia de Lange Syndrome.

CdLS may also cause issues with intellectual development and coordination. This can include psychomotor retardation, as well as intellectual disability. Psychomotor retardation means that the child may have difficulty developing mental-muscular coordination. In other words, children may struggle to develop motor skills. As far as intellectual disability, it can range from mild to severe, and may impact the child’s behavior. Behavioral issues may include screaming, biting, and self-harm behaviors like hitting themselves.

What are the Treatment Options for Cornelia de Lange Syndrome?

Like many other diseases, the treatment focuses on the specific symptoms. This is called supportive treatment. Since CdLS affects so many different systems, children may have teams of specialists that all work together to treat them. The type of specialists that make up the team will depend on the symptoms. For some symptoms, there may be more permanent solutions. Issues such as a cleft lip or cleft palate can be surgically corrected. Some heart problems that develop from CdLS can be corrected with surgery. Gastrointestinal issues can also be helped with surgery.

There are medications available to treat certain symptoms. It is important to note that treating the symptoms and treating the disease are different. There are no treatments designed to specifically treat the syndrome or all the symptoms. Medications can treat things such as seizures and infections. They can also treat urinary issues, gastrointestinal issues and more.

A Little Information About Rare Diseases

Cornelia de Lange Syndrome is one of almost 7,000 rare diseases. The definition of a rare disease is a condition that affects less than 200,000 people in the United States. Rare diseases may be genetic or random. Rare diseases have no definitive characteristic other than the number of people affected. Some may be chronic illnesses, some may be disabilities, some may be gene mutations. They may be different than all three of these.

The biggest obstacle people with a rare disease face are finding a doctor that can diagnose them. The second biggest obstacle is finding treatment options that have a meaningful impact. As you can imagine, diseases that aren’t common have less appeal to drug companies. Developing a medication that only treats a small percentage of the population is not as profitable as one that treats millions of people. Rare disease patients may suffer for years or decades before finding their answer.

Rare Diseases and Orphan Drugs

There are very few options for medications to treat rare diseases. And, there are certain pharmaceutical companies dedicated to developing medicines for rare diseases. There are also some divisions of major drug companies that develop these medicines. These medications are called Orphan drugs. The Orphan Drug Act provides funding and incentives to companies who develop them. These drugs take longer to develop because they have smaller development teams and less funding. Even so, Orphan drugs have great potential for future breakthroughs in treatment. Orphan drugs offer a lot of hope.

“When we have hope, we discover powers within ourselves we may have never known- the power to make sacrifices, to endure, to heal, and to love. Once we choose hope, everything is possible.”
-Christopher Reeve

To Learn More:

To learn more about Cornelia de Lange Syndrome, I suggest rarediseases.org. There is even a Rare Disease Day observed each year. It is the mecca of rare disease information. Rare Diseases are represented by the zebra ribbon or the blue jeans ribbon for global jeans.

Sources: Fda.gov, rarediseases.org, globalgenes.org