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Williams Syndrome – Symptoms And Causes of Williams Syndrome

Williams syndrome is often abbreviated as WS or WMS or Williams–Beuren syndrome (or WBS). The primary cause of the Williams Syndrome is the deletion of about 26 gene from the chromosome no.7. WMS is a neurodevelopmental disorder which is rare in occurrence.

Its common symptom is the appearance of a distinct “elfin” facial appearance (appears naturally mischievous). A low nasal bridge, an unusually cheerful conduct, unnatural ease with strangers, developmental delays, unexpectedly poor language skills, cardiovascular problems are a few symptoms and signs of Williams Syndrome. This rare disorder was first identified by Dr. J.C.P. Williams in the year 1961 at New Zealand.

Symptoms of Williams Syndrome

The most common symptoms observed in a patient with Williams Syndrome are as follows –

  • heart defects or cardiac problems
  • mental disability
  • unusual facial features
  • low toning of muscles
  • difficulty in gaining weight during infancy
  • extremely highly verbal
  • unusually over-social to others
  • a significant blend of strength and weakness in the cognition
  • focus more on others eyes
  • widely placed teeth
  • flattened nasal bridge
  • long philtrum (the vertical indentation appearing between the nose and the upper lip)
  • abnormal acuteness of hearing (intolerance of ordinary levels of sound)
  • abnormal sensitivity to hearing (phonophobia)
  • prevalence of left eye dominance and left-handedness
  • higher levels of anxiety
  • difficulty in visual processing
  • abnormal proficiency in verbal skills

Some other symptoms may be observed like

  • gastrointestinal problems
  • hormone problems
  • signs of hypothyroidism in childhood
  • diabetes in adults
  • an unusual passion for music

Causes of Williams Syndrome

The causes of Williams syndrome include the deletion of some genetic material from the chromosome no.7. A particular gene by name ELN gene codes for the protein Elastin. Any absence of this gene can result in the abnormalities of connective-tissue and cardiovascular disease. Some other genes responsible for visual-spatial activities also get deleted causing visual and visual-spatial processing problems. Even genes coding for cognitive and behavioural skills are also affected.

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