Williams Syndrome – Causes, Symptoms, Treatment, Life Expectancy

Early diagnosis of genetic syndromes is important. Such early diagnosis increases Williams syndrome life expectancy for people with this rare genetic disorder. Not enough scientific studies have been done on the life expectancy of Williams syndrome sufferers. There are some sufferers living normal lives up to adulthood.

The average loss of years in the lifespan of people with this syndrome is between 10 and 20 years. Williams syndrome is also called Williams Beuren Syndrome. The major effect of this syndrome is elevated calcium levels in the blood.

How Is Williams Syndrome Caused?

The Williams syndrome chromosome is chromosome 7. Deletion of genetic material in a region of chromosome 7 leads to Williams disease. A set of not less than 25 genes goes missing. The loss of genetic material is credited with the characteristic features seen in people with the syndrome. Abnormalities resulting from the missing genes often affect the heart and connective tissue.

• One of the missing genes is elastin.
• Without the elastin gene, your blood’s elasticity is compromised. This is the leading cause of Williams disease heart disorders and defects of your circulatory system.

Williams Syndrome Symptoms

A syndrome is a medical condition that shows a specific set of symptoms together. Williams syndrome does not always show at birth. Your doctor may note symptoms over time and carry out the diagnosis. This syndrome affects the facial features of sufferers to cause what is called an elfin appearance in individuals. Common symptoms noted among people with Williams syndrome include

• Facial features such as teeth being widely spaced, full lips, having a wide mouth and a small upturned nose
• Feeding problems or colic
• Short Stature
• Inward bend of your hands’ smallest finger(s)
• Having Phobias
• Low birth weight
• Attention Deficit Hyperactivity Disorder
• Speech delays
• Farsightedness
• Learning disorders
• A degree of learning disability
• Sunken chest

In completing the diagnosis of Williams syndrome based on its symptomatic presentation, your doctor might consider the personality traits you have. Of interest to the doctor in such a case is whether you have an interest in music, marked sensitivity to elevated noise levels in the environment and overfriendliness.

Aversion To Physical Contact Is Also Seen In Many Sufferers Of Williams Syndrome.

• Personality traits of people with Williams syndrome have led to the name ‘Cocktail Party Syndrome’. This is because people with Williams syndrome are affable, very outgoing and friendly.
• The good nature of Williams syndrome sufferers and their personality traits are credited with the rise of the concept of elves in popular English folklore.

Williams Syndrome Diagnosis

Diagnosis of Williams Syndrome is guided by the symptoms you show. The physical manifestation of the syndrome is very useful in Williams syndrome diagnosis. A test called Fluorescence In Situ Hybridization is used. It marks genes with a fluorescent dye. This helps medical practitioners confirm whether there are any deletions in your genes.

Other useful tests for diagnosing Williams syndrome are blood pressure checks, echocardiogram and kidney ultrasound. You will also want to have the levels of blood calcium checked. Unusual patterning of the eye’s iris is another indicator of Williams Beuren syndrome. Early diagnosis is important since there is no recognizable or recommended Williams syndrome diagnosis age.

Imaging is used to help your medical caregiver keep track of Williams syndrome progress. Such imaging methods may include radiology. Your doctor or medical consultant will explain to you the purpose and need for any Williams syndrome radiology procedures you may undergo. The abnormalities detected via Williams syndrome radiology vary from one individual to the next one. The strategy of use for such imaging techniques and their usefulness is best decided upon by your healthcare consultant.

Williams Syndrome Life Expectancy

The life expectancy of persons living with Williams syndrome is not severely reduced. Management of the conditions arising from having the syndrome is possible. It helps give sufferers of Williams Beuren syndrome a nearly normal lifespan. If left untreated, such medical conditions such as calcium deposits and narrowed blood vessels affect the working of the kidney and lead to medical complications. Heart failure can result from this.

• Self help skills and early intervention are important for people with Williams syndrome to attain some degree of independence.
• Few sufferers of the syndrome need care in a specialized home or environment.

How Is Williams Syndrome Treated?

There is no known single cure for Williams syndrome. Management of conditions that may arise as a result of having the syndrome is often the best course of treatment. Medical practitioners do not have a standardized treatment protocol that applies to all cases of Williams syndrome. Treatment is settled upon per individual.

Speech therapy and physical therapy are beneficial when you have Williams syndrome. Regular checkups help your healthcare provider in keeping track of arising problems. People with Williams syndrome are strongly cautioned against taking vitamin D and calcium supplements.

Prevention of Williams syndrome is still a medical puzzle. A family history of Williams syndrome increases your chances of having the syndrome or passing it to your children. Seek genetic counselling from a qualified healthcare provider before the conception of your child.