Print this page
 Email this page

 Connect with UMMC on:
 Twitter
 Facebook
 YouTube
iPhone

 Share this page:

Bookmark and Share

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

 

Video details

[ Flash player icon ] Please install flash player to see this video.

Hospital Virtual Tour

Click to take a virtual tour

Related Content


 

Williams syndrome - Symptom

Alternative Names

Williams-Beuren syndrome

Symptoms:

  • Delayed speech that may later turn into strong speaking ability and strong learning by hearing
  • Developmental delay
  • Easily distracted, attention deficit disorder (ADD)
  • Feeding problems including colic, reflux, and vomiting
  • Inward bend of the small finger (clinodactyly)
  • Learning disorders
  • Mild to moderate mental retardation
  • Narrowing of the large artery that leaves the heart (aorta)
  • Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music
  • Short compared to the rest of the person's family
  • Slack joints that may change to stiffness as patient gets older
  • Sunken chest (pectus excavatum)
  • Unusual appearance of the face
    • Flattened nasal bridge with small upturned nose
    • Long ridges in the skin that run from the nose to the upper lip (philtrum)
    • Prominent lips with an open mouth
    • Skin that covers the inner corner of the eye (epicanthal folds)
    • Partially missing teeth, defective tooth enamel, or small, widely spaced teeth

Signs and tests:

Signs include:

  • Blood vessel narrowing including supravalvular aortic stenosis, pulmonary stenosis, and pulmonary artery stenosis
  • Farsightedness
  • High blood calcium level (hypercalcemia) that may cause seizures and rigid muscles
  • High blood pressure
  • Unusual pattern ("stellate" or star-like) in iris of the eye

Tests for Williams syndrome:

  • Blood pressure check
  • Blood test for missing chromosome (FISH test)
  • Echocardiography combined with Doppler ultrasound
  • Kidney ultrasound
  • Reviewed last on: 2/5/2008
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com