Williams Syndrome: Symptoms & Signs

Medically Reviewed on 8/18/2020

Williams syndrome is a rare genetic disorder.

Signs and symptoms of Williams syndrome can include

  • speech delays,
  • short stature,
  • phobias,
  • an inward bend of the pinky finger,
  • learning disorders,
  • colic,
  • wide mouth,
  • small upturned teeth,
  • full lips,
  • widely spaced teeth,
  • low birth weight,
  • low muscle tone,
  • intellectual disability,
  • sunken chest, and
  • farsightedness.

Sometimes, problems with the heart and circulation are present.

Cause of Williams syndrome

Deletion of genetic material from chromosome 7 causes Williams syndrome. The deleted area contains more than 25 genes, and affected individuals may vary in the amount of genetic material deleted. Most people do not inherit Williams syndrome from their parents. Instead, the deletions in chromosome 7 are due to random events that occur in eggs or sperm.

Other williams syndrome symptoms and signs

  • Colic
  • Farsightedness
  • Full Lips
  • Intellectual Disability
  • Inward Bend of the Pinky Finger
  • Learning Disorders
  • Low Birth Weight
  • Low Muscle Tone
  • Phobias
  • Short Stature
  • Small Upturned Teeth
  • Speech Delays
  • Sunken Chest
  • Wide Mouth
  • Widely Spaced Teeth

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.