Williams Syndrome

Williams Syndrome is specifically a genetic disorder and the person suffering from the disorder exhibits mental retardation (mild to moderate). He/she has learning difficulties and an abnormal facial appearance. The personality of the affected person is distinctively over-friendly and outgoing, along with the exhibit of high level of empathy and anxiety. The person also suffers fromcardiovascular problems and some kind of phobias. However, the patients are good at spoken language and memorization but cannot fare well in visual-spatial tasks like writing and drawing. Some other names of Williams syndrome are:

  • Beuren syndrome
  • Elfin Facies Syndrome
  • Elfin facies with hypercalcemia
  • Hypercalcemia-Supravalvar Aortic Stenosis
  • Infantile hypercalcemia
  • Supravalvar aortic stenosis syndrome
  • WBS
  • Williams-Beuren Syndrome
  • WMS
  • WS

Symptoms

The symptoms of Williams syndrome are mental disability, cardiovascular problems and distinctively unusual facial features. The other symptoms are low muscle tone and inability to gain weight. They show in themselves a blend of cognitive strengths as well as weaknesses.

The most prominent symptoms are:

  • Delay in speech. This strangely turns into a strong speaking a hyper-development in speaking abilities. The persons also exhibit a quick grasping ability of learning things through hearing.
  • Delay in mental and physical development
  • Problems that include colic
  • An abnormal and inward bend of the small finger
  • Delay and disorders in learning
  • Mental retardation, mild to moderate
  • Over-friendliness and trusting strangers
  • Fearing loud sounds but interested in music
  • Sunken chest
  • A very small and upturned nose
  • Prominent lips and an open mouth
  • Epicanthal folds
  • Defective teeth and tooth enamel along with prominent and widely spaced teeth

The other signs and symptoms of Williams Syndrome are:

  • Abnormality in the connective tissues, leading to joint problems and loose skin.
  • Increased calcium level in the blood
  • Short stature
  • Problems in vision, and the digestive and the urinary tract

Causes

The main cause of William Syndrome is the deletion of the genetic material from the region q11.23 of chromosome 7. The part contains more than 25 genes; the loss of these genes causes this specific disorder in the patients suffering from Williams syndrome. However, there may not be any family history of the disorder. But a person suffering from Williams Disorder has almost 50% chance to pass it on to his/her offspring.

Williams syndrome is a rare condition caused by missing genes. Parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children. The cause usually occurs randomly. This syndrome is an autosomal dominant condition. This is because just one copy of the altered chromosome 7 in each of the cells is more than sufficient to cause the disorder.

Williams syndrome is found to occur in about 1 in 8,000 births.

Prevention

We cannot prevent the genetic problem that causes Williams Syndrome. Prenatal testing is advisable for couples who have a family history of the disorder.

Treatment

Williams Sundrome is an uncommon disorder, and there is no cure for it. The person who has been born with it has to live with it. But they should be treated with love and care, and considered ‘special’, and not unfortunate or handicapped. Regular cardiovascular monitoring should be done to keep a check on their medical problems like high blood pressure or heart problems.