Williams Syndrome

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Williams Syndrome

Williams Syndrome is a genetic developmental disorder which affects many parts of the body. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.  These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

Features of Williams Syndrome

  1. Characteristics facial features
    1. small upturned nose
    2.  long philtrum (upper lip length)
    3. wide mouth
    4. full lips
    5. small chin
    6. puffiness around the eyes.
    7.  Blue and green-eyed children with Williams syndrome can have a prominent “starburst” or white lacy pattern on their iris.
    8.  Facial features become more apparent with age.
  2.  Heart and blood vessel problems
    1. Narrowed aortas
    2. Narrowing in the pulmonary arteries
    3. SVAS (supravalvular aortic stenosis) is commonly seen
  3. Hypercalcemia Low Birth weight and slow weight gain
    1. High blood calcium levels
    2. Colic like symptoms due to metabolic problems of VitD in the body
  4. Feeding problems
    1. This is due to poor muscle tone, severe gag reflex, poor swallow and tactile defensiveness
  5. Colic during infancy
    1. Extreme irritability or extended colic is typical
    2. Sleep disturbances due to this are reported
  6. Dental problems
  7. Kindey abnormalities
  8. Musculoskeletal problems
    1. Low muscle tone
    2. Joint laxity
    3. Contractures ( joint stiffness) might develop in adulthood
  9. Developmental Delays
  10. Learning disability
  11. ADHD ( Attention Deficit Hyperactive Disorder)
  12. Extremely social and overly friendly children

Williams Syndrome Cause

WS is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted portion includes more than 25 genes, and researchers think that a loss of several of these genes probably contributes to the characteristic features of this disorder. Occurrence is 1 in 7500 to 20 000 children.

Intervention

Since it’s a condition affecting multiple organs, there has to be constant support from many specialists throughout their lives. Pediatricians, Cardiovascular specialists, Surgeons, Speech language Therapists, Occupational Therapists and Special Educators all work collectively for the rehab of children born with Williams Syndrome.

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