Williams Syndrome

Williams syndrome is a rare genetic disease. It is identified by the occurrence of serious medical problems such as presence of compressed arteries that cause cardiovascular diseases. High levels of calcium in blood may also be found in patients when they are infants. A person suffering from Williams syndrome experiences learning difficulties, and a unique attitude that includes anxieties, and excessive compassion and friendliness. The patient may be suffering from mild to severe mental retardation.

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Williams syndrome occurs due to a random genetic change which causes removal of a small part of chromosome seven. Therefore, it is not hereditary. However,a person with the syndrome carries a high risk of about fifty percent of passing this disorder to the child.

Unfortunately no proper cure for Williams syndrome is known as yet. Also, no defined treatments are available. It is an uncommon and complex disorder for which different medical experts have to be consulted and then plan for effective cure.

Symptoms

The signs and symptoms of Williams syndrome may differ from person to person; some may show mild symptoms whereas some may show very severe signs. The treatment is done as per the level of symptoms. Therefore it is necessary to study them.

Some of the signs and symptoms of Williams syndrome are as follows:

  • Presence of ADD or Attention Deficit Disorder in the patient. The patient may also suffer from poor concentration abilities and become unfocused very easily.
  • Poor speech development or delay in speech or language. However, after some time it may change into good speaking capabilities with good learning through hearing.
  • Mental retardation may vary; it may be mild to moderate.
  • The small finger may be twisted inwards
  • Some personality features are very visible, such as over-affability, extra interest in music, trusting strangers, and dread of physical contact or piercing sound.
  • Patient may not have as good a height as compared to other family members
  • Learning disabilities
  • The patient may have a hollow chest
  • A person suffering from Williams syndrome may not have a regular facial appearance. Some other unusual features are:
    • The interior part of the eye is usually covered by skin folds
    • The bridge of the nose is flat. It is wrong side up
    • Long folds that start at the nose and end at the upper lip is visible
    • Teeth might be tiny or not properly spaced, away from each other or absent as well. Some flaws are visible in the tooth enamel

At times few complications may arise because of Williams syndrome:

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  • Constriction of arteries may result in cardiac failure
  • In very rare cases, the patient might die because of anesthesia
  • Excess calcium in the kidney and kidney disorders
  • Excess pain in abdomen

When a child is born, symptoms of Williams syndrome are not visible. If any of the signs and symptoms are noticed by parents or a health care giver, then a specialist should be consulted immediately. If a member of the family has suffered from Williams syndrome then it is better to go for genetic counseling before planning for a baby.

Causes

Williams syndrome is a rare disorder and it occurs because some genes are not present, i.e., the genes are absent. This condition occurs by chance. Even though none of the parents have this condition,their child may suffer from Williams syndrome. Also, if any of the parents do have this disorder then there is fifty percent chance that the baby may also develop this genetic mutation.

One amongst the twenty five genes that are lost or mutated is the gene that develops a protein called as ‘elastin.’ The main function of elastin is to allow a variety of blood vessels and tissues in the body to expand and elongate. The absence of one copy of this gene is said to result in narrowing of the arteries, which is a characteristic feature in Williams syndrome patients. The occurrence rate of this disorder is around one in about eight thousand births.

Treatment

No proper cure has been discovered as yet for Williams syndrome. Still treatment methods are adopted to alleviate and correct the signs and symptoms of Williams syndrome. Some of the precautionary measures and treatments are as follows:

  • If a patient is suffering from speech disabilities then speech therapy is advised to improve their language and speech
  • Excess intake of calcium and vitamin D should be avoided. If patients have high amount of blood calcium then doctor would treat as per the particular level of calcium to control it.
  • To loosen the stiffness of joints doctor may recommend physical therapy. This will lessen the symptoms of stiff joints.
  • Constricted arteries cause cardiovascular disorders. This constriction may be high or low. The patients are treated as per the condition whether it is mild or severe. If medicines do not work then another option, i.e., surgery is recommended.

Life Expectancy

The life expectancy in patients with Williams Syndrome is lower than that of a healthy individual. Also, these patients need continual care and support. Close to 80 percent of cases show some degree of mental disorder. With proper care and attention, a person can be expected to live beyond 60 years of age.

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