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William Syndrome

Williams Syndrome is a condition that develops when some of the genes in chromosome 7 are missing. The deleted genetic material causes problems with the physical and mental state of an individual. People with this condition exhibit elfin facial features and certain cardiovascular problems. Also, they find it difficult to learn new things and process visual-spatial tasks, like assembling puzzles and drawing.  They also have difficulties in paying attention. On the other hand, individuals affected by Williams Syndrome have remarkably cheerful dispositions and strong verbal abilities. They enjoy being around people and display a love for music.

The condition can have a huge impact on the social well-being of the person and his/her family. Though it is incurable, treatment is available to help the patient and the family deal with the condition positively. Physical, speech and developmental therapies can significantly improve the overall quality of life of the patient. Still, cardiovascular complications might happen and this is the reason why constant monitoring by the doctor is required.

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Cause of Williams Syndrome

Williams Syndrome is the result of deleted genetic materials in chromosome 7. The deletion happens during the earliest stages of pregnancy, particularly when the double helix of the DNA is rapidly dividing into two separate strands. Around 25 genes are missing because they had been torn loose when the DNA’s double helix separated. This genetic accident occurs randomly and is rarely inherited. WS has an autosomal dominant pattern which means a person can have it if one of the parents has the defective chromosome 7.

The syndrome was named after Dr. J.C.P. Williams in 1961, a New Zealander who first observed the symptoms in four patients. Dr. A.J. Beuren of Germany also had three patients with similar facial, physical and mental representations.

Incidence of Williams Syndrome

The condition had been found to affect 1 out of 8,000 births. Recent studies revealed that more people are actually afflicted by the syndrome than previous medical records show. This is because Williams Syndrome is not yet clearly understood and so it sometimes ends up being misdiagnosed. The absence of IQ deficiency and/or distinctive facial features also contributes to the misdiagnosis of the syndrome.

The disorder occurs randomly but those suffering from the syndrome have a 50% chance of passing the defective chromosome onto their offspring. There is no way to prevent or lower the chances of the condition from developing because it is a genetic accident.

Symptoms of Williams Syndrome

The absence of 20 to 26 genes in chromosome 7 causes distinct facial characteristics. This also results in cardiovascular problems due to a missing gene that is responsible for producing elastin which allows the blood vessels and tissues to be elastic. The absence of other genes causes mental and cognitive deficits, attention disorder and visual processing difficulties. The symptoms of Williams Syndrome can be classified into:

  • Physical appearance

The deletion of several genes in chromosome 7 causes the distinctive elfin facial appearance of WS patients, such as short nose, small chin, wide mouth but full lips and broad forehead. The face becomes thinner and longer as they reach adulthood. Some of those affected have crooked, widely-spaced, small teeth; while others have a few teeth missing.

  • Developmental delay

The missing genes in Williams Syndrome lead to developmental problems and delays. Williams Syndrome children are born with low birth weights and gain weight slowly because of feeding difficulties caused by dental problems or reflux. Indeed, they are small for their age.  Meanwhile, abnormal connective tissues cause lax and stiff joints, poor muscle tone and loose skin. Aside from cardiovascular problems, they may also have kidney and digestive problems.

  • Neurological problems

The deleted genes also have a huge impact on the brain, resulting in the impairment of normal visual-spatial processing. This is usually manifested by difficulties in assembling puzzles, writing and drawing. The affected child may also display poor coordination and difficulty in performing simple motor tasks like walking and involuntary motor reflexes such as moving the eyes.

  • Psychological issues

The affected individuals have incredibly high levels of anxiety making them more susceptible to phobia. Concentrating and paying attention may likewise prove to be a challenge. They have poor understanding of the meanings, ideas and scheming of other people’s body language and facial expressions which are essential for social interactions.

Despite all of these, people with Williams Syndrome exhibit unusually impressive qualities and virtues. Those afflicted by the condition are overly sociable and feel at ease around strangers. They exude a cheerful behavior and show strong verbal skills. In addition, they have a deep interest in music and near-perfect pitch than others.

Treatment of Williams Syndrome

The treatment for Williams Syndrome aims to help the patient by preventing any preexisting medical problems from aggravating. It also aids in alleviating the symptoms, like low muscle tone and joint stiffness, as well as in improving the speech so that interactions with others become more effective. Patients may be put on a special diet for their nourishment and be given medications to manage some of the symptoms associated with the syndrome.

William Syndrome – Life Expectancy

It has been seen that adults with William Syndrome are alive and doing well even at the age of 60.  There has not been a conclusive evidence on the life expectancy of William Syndrome.

 

William Syndrome Pictures

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