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Symptoms Associated with Williams Syndrome

Heart disease

Heart issues:

  • Narrowing of the aorta just above the valve is common.
  • Other findings may include:
    • Mitral valve insufficiency
    • Narrowing of the renal artery
Unique facial appearance

These facial features include:

  • Prominent lips with an open mouth
  • A long philtrum (distance from the midline of upper lip margin to base of nose)
  • Low nasal bridge (top of the nose between eyebrows is flattened) with an upturned tip
  • Epicanthal folds (extra fold of skin over inner corner of eyes)
  • Partial absence of teeth or defective tooth enamel possible
  • Irregular star like pattern of the iris may be present
Connective tissue problems

These include:

  • Joint laxity and limitation
  • Soft, lax skin
  • Low muscle tone and floppy joints can result in delayed motor milestones.
    • This can lead to compensatory postures to get more stability.
    • With age, may have tighter tone, stronger reflexes, tightening of heel cords and hamstrings.
    • This can result in a stiff and awkward gait and curving of the spine by adolescence.
    • Consider range of motion exercises to prevent or improve joint tightness.
  • Inguinal/umbilical hernia
  • Bowel/bladder diverticula
  • Rectal prolapse 
Hoarse or low pitched voice
  • Vocal cord changes due to lack of elastin
Progressive sensorineural hearing loss
  • mild to moderate high frequency hearing loss is common in adults
Vision / Eyes
  • Farsightedness in 50% of individuals with WS
  • Crossed eyes (strabismus) in 50% of individuals with WS
Intellectual disability (usually mild) occurs in 75% of individuals
  • Specific cognitive profile: strengths in verbal short term memory and language
  • Extreme challenges with visuospatial activities
Unique personality characteristics
  • Overfriendly
  • Empathetic
  • Generalized anxiety
  • Attention deficit disorder
Growth abnormalities
  • Prenatal growth deficiency
  • Failure to thrive in infancy
  • Poor weight gain and linear growth in first four years
  • Rate of linear growth 75% of normal in childhood
  • Adults usually below 3rd % in height
Endocrine abnormalities
  • Hypercalcemia- too much calcium in the blood
  • Hypercalciuria- too much urinary calcium is excreted