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Williams Syndrome - Causes, Symptoms, Diagnostics and Treatment

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Williams Syndrome, have you heard of it? It is a very rare congenital abnormality. Find out the causes, symptoms, diagnostics, tests and treatment for Williams Syndrome.

Williams Syndrome (WS or WMS) is a very rare neurodevelopmental disorder or congenital abnormality often characterized by elfin facial appearance and is caused by the deletion of chromosome 7. This syndrome was first identified by Dr. J.C.P. Williams of New Zealand in the year 1961.

Williams Syndrome - Causes

Williams Syndrome is caused by the deletion of chromosome 7; in other words, missing of one of the 25 genes that helps in the production of elastin. Elastin is a protein that helps blood vessels as well as other tissues in the human body to stretch. It is not necessary to have a history of Williams Syndrome in the family for a person to be affected by it.

Williams Syndrome - Symptoms

Williams syndromeWilliams Syndrome

Some of the most common symptoms of Williams Syndrome include elfin facial appearance, heart defects and mental disability. Other signs and symptoms include:

1. Elfin facial appearance include upturned nose, flattened nasal bridge, widely spaced eyes, wide open mouth with prominent lips, small chin, missing tooth, widely spaced teeth, defective tooth enamel, etc.

2. Delayed speech, sometimes children affected with Williams Syndrome doesn’t talk till they reach the age of 3.

3. Low birth weight and difficulty in feeding that include colic, reflux, and vomiting.

4. Problems for the child in gaining weight.

5. Small finger of the child bent inwardly.

6. Sunken chest.

7. Bed wetting and urinary difficulties.

8. Mental retardation.

9. Problems in learning.

10. Abnormal proficiency in verbal skills.

11. Problems in co-ordination and balance.

12. Exhibits “cocktail party” personality; meaning, very friendly towards strangers and trusting them.

13. Cardiovascular problems include heart murmurs and narrowing of blood vessels.

14. Very high calcium levels or hypercalcaemia.

15. Gastrointestinal problems.

16. Farsightedness.

Williams Syndrome - Diagnostics

What are the ways to identify Williams Syndrome? Diagnostics or tests for Williams Syndrome are:

1. Checking blood pressure as it might be due to high blood pressure levels.

2. Blood test to know the missing chromosome.

3. Echocardiography.

Williams Syndrome - Treatment

To this date, no cure has been found for Williams Syndrome; however, patients with Williams Syndrome are advised on the following:

a. Not to take extra or high levels of calcium and Vitamin D.

b. Treating high blood calcium levels if present.

c. If the cause of Williams Syndrome is blood vessels narrowing then treating it.

d. If suffering from joint stiffness, physical therapy is provided.

e. For children with learning disabilities and delayed development, developmental and speech therapy is provided.

Is your child showing any of these symptoms? If yes, contact your medical practitioner right away.

References:

Williams Syndrome; Williams syndrome information; Williamss-Beuren syndrome

4 comments

magiclife world
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Posted on Aug 30, 2012
+Paulose
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Posted on Jan 24, 2012
Roberta Baxter
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Posted on Jun 18, 2011
Roberta Baxter
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Posted on Jun 17, 2011

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Anuradha Ramkumar

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