Williams syndrome: causes and symptoms

Isn’t it fascinating to know that music is the only hope best for long-term survival for children diagnosed with a rare ailment? But not to forget, the symptoms are quite bizarre considering the beautiful growing up days for kids?

Well, this rare genetic disorder is termed as ‘Williams Syndrome’. Discovered by Dr J C P Williams after noticing that children entering his hospital with cardiovascular ailments shared with common traits. This syndrome occurs in one out of every 20000 American newborns.

Equally prevalent from birth in males and females, this syndrome is a condition of mental retardation, unusual facial appearances, heart abnormalities, problems with blood vessels and calcium imbalances. These babies have a unique pattern of emotional, physical and mental quotients.Пов’язане зображення

CAUSES

Missing genetic material on chromosome number seven causes William Syndrome. It is gene that forms ‘Protein Elastin’ a protein that ensures strength to the walls and tissues of blood vessels.

It is because of abnormal formation of protein elastin that results in bizarre physical attributes. The extent of abnormal formation differs may vary person to person. However, no two persons suffering from ‘William’s Syndrome’ will have the same problems.

As far as hereditary factors are concerned, the individual has nearly fifty percent of chances of passing the disorder to his children. It occurs spontaneously, not as the result of transmission of genes from either of the parents. Researchers believe that it would be highly impossible for the second child to succumb with Williams Syndrome.

SYMPTOMS

The symptoms of Williams Syndrome vary from child to child. No child with Williams Syndrome suffers from the same kind of symptoms. The following are the various problems. These include:

  • Heart and blood vessel problems
  • Low birth-weight
  • Low weight gain
  • Extended period of colic or irritability
  • Dental abnormalities
  • Kidney abnormalities
  • Hernias
  • Developmental delay
  • Learning disabilities
  • Distractibility
  • Quickness to comprehend
  • Narrowing of blood vessels
  • Concavity of the chest

While noticing the symptoms, it is very important to observe physical as well as neurological and behavioral symptoms.

Physical Symptoms

  • Widely spaced teeth
  • Long philtrum
  • Flattened nasal bridge
  • Inward bend of the small finger
  • Lips with an open mouth

Behavioral Symptoms

  • Impaired visual-spatial abilities
  • Impaired problem solving
  • Language abilities
  • Anxiety
  • Lack of attention
  • Love of music
  • Hypersensitivity to loud noises
  • Intellectual disability

Williams Syndrome is diagnosed by the technique known as fluorescent in situ hybridization (FISH). FISH is a diagnostic test of the DNA detects the Elastin deletion on chromosome number seven.

So far, there has been no successful treatment for treating Williams Syndrome. However, there are support groups where both parents and children are given counseling with the help of psychologists and physicians together.

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