William’s Syndrome is one of the rarest disorders, but what are its practical symptoms? Let’s find out.
Nearly a month ago, I met one of my old friends, and we decided to take a stroll. We went to Elite Park near my home, which was crowded with many women and children.
Initially, I was happy to see him as we met after a long time. However, I was also noticing many different things around the park. Besides, everyone was busy with their chores and didn’t care about the dusk.
After walking for an hour and interacting with my friend beside me, I saw an unusually bubbly person. At first glance, I mistook him for a typical extravert with high requirements for social interaction.
However, I realized that something was off about him. Besides, he didn’t seem too individualistic. His gregarious nature made me a bit uncomfortable.
I remembered him from the park and searched for his behaviors and traits on the internet. To my surprise, I found the results of William’s Syndrome.
After doing some research about his condition, I concluded that the person was suffering from William’s Syndrome.
So, “What is William’s Syndrome?”
It is a developmental disorder marked by moderate intellectual disability, learning problems, and heart and blood vessel diseases.
Upon further inspection, I realized that this disorder is a result of some genetic mutations and are not hereditary. However, there is a 50% chance that this syndrome can pass from a bearer to his offsprings.
You can also watch the video below by Osmosis to know about William’s Syndrome:
What are the causes and symptoms of William’s Syndrome:
For every disorder, there is a cause.
However, the causes of William’s Syndrome are genetic mutations (In other words, it is not hereditary and hence cannot affect everyone). These genetic mutations are the result of a significant factor. The roots of the causes lie in the genetic material within the chromosomes.
So, “What are the causes of William’s Syndrome?”
Willliam Syndrome is the result of the deletion of a genetic material form a particular region of chromosome 7. This region consists of approximately 26 or 28 genes, and hence the loss of these genes is responsible for this disorder.
In other words, the absence of these genes makes the bearer different than the rest. Moreover, the innate ability of suspicion and doubt is also absent, which makes them naive. As a result, they are not inherently aware of people’s motives and can be a victim of manipulation.
Further, they also have trouble controlling their gullibility, which can intimidate other people. Ironically, it is easy to trust them as they come across as genuine and authentic.
In many ways, this disorder is the extreme opposite of autism. Besides, it is difficult for any person, other than their loved ones, to deal with them.
When I saw that gregarious person, I realized that he was suffering from a disorder. In other words, his unusual traits were noticeable. Anyone could have guessed his abnormal state.
The symptoms of William’s syndrome are related to the physiological and psychological conditions. Besides, they go through a lot of issues concerning their abnormal physical and mental characteristics.
The symptoms of William’s Syndrome are as follows:
1. Abnormal facial features caused by connective tissue abnormalities:
The absence of the elastin gene causes abnormal facial features, which are significantly apparent. The features are different from the rest and are common among people suffering from Willliam’s Syndrome.
Some of these features are:
- They have a broad forehead
- A flat nose with a wide nasal bridge
- Puffiness around the eyes
- A short and upturned nose
- A long medial cleft
- Wide mouth and full lips
These features can give them an elven-like appearance which is strikingly different from the general population.
2. Heart and blood vessel problems:
The heart and blood vessel problems are common for people suffering from William’s Syndrome. It is the result of the narrowing of blood vessels like the aorta producing supravalvular aortic stenosis.
Further, it is also accompanied by narrowing or thinning of pulmonary arteries causing high blood pressure and hence cardiovascular problems. As a result, frequent monitoring of heart and vascular diseases is necessary.
3. Elevated Blood Calcium Levels (Hypercalcemia):
It is one of the symptoms of William’s syndrome, with high blood calcium levels. Moreover, high calcium levels or hypercalcemia causes irritability or whiny and complaining behavior.
The treatment is done by dietary monitoring, and in most cases, hypercalcemia cures on its own. However, for some people, this abnormality of calcium levels exist for a lifetime and may cause severe problems.
4. Problems in gaining weight:
People suffering from William’s Syndrome face difficulty gaining weight. They have low birth weights and have low body masses. Besides, they also are short in stature compared to people of their age.
Generally, they identify themselves with their short height and distinct physiology.
5. They have a typical party personality:
They have a very bubbly and gregarious nature, which can be mistaken for their extraverted nature. However, like the typical extraverts, they are very talkative, outgoing, and have excellent verbal skills.
But it is where we can differentiate them from the rest as they are not very observant and careful with people’s emotional boundaries. Moreover, they and can exhaust people with their constant talking and clingy nature.
6. They suffer from cognitive impairment or weakness:
It is tough for them to grasp or learn things as they suffer from cognitive impairment. Besides, they have issues thinking in numbers and patterns and can rarely focus on things at hand. Above all, their mental development is delayed, and they struggle coping up with the aging process.
In older children as well as adults, some specific intellectual strengths and weaknesses are present with strong social skills, long-term memory, and speech. However, they have a weak motor and spatial skills.
Diagnosis and cure for William’s Syndrome:
1. Diagnosis of William’s Syndrome:
Abnormal facial features characterize William’s syndrome. Therefore, the treatment is done by microanalysis, i.e., by analyzing the deficit or absence of gene expression (elastin).
Another way or test is the Fluorescence In Situ Hybridization (FISH). In this test, a fluorescence probe is used to examine the absence of genes in chromosome 7. As a result, the fluorescence probe scans the chromosomes, which emits the spots, and identifies the chromosome, which doesn’t.
2. Cure for William’s Syndrome:
Due to genetic microdeletion, there is no cure, at present, for William’s Syndrome. The only thing we can do is to properly monitor the effects of this disorder. Some of the possible solutions are:
- Surgical repairs can solve the heart and blood vessel problems.
- Antihypertensive medications treat symptoms of anxiety and depression.
- Calcium restricted diet resolves the issues with blood calcium levels.
- Therapeutic sessions can resolve the problems concerning the impairment of cognitive functions.
To sum up, William’s Syndrome is quite a rare disorder affecting 1 in every 10000 people. Besides, it characterizes abnormal physical and psychological processes.
Nevertheless, this disorder can be diagnosed effectively by gene analysis and FISH technique. Further, the cure is done by management through medications, surgeries, and therapies.