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Williams syndrome

  • 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
    • 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
    • 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
    • Slack joints that may change to stiffness as patient gets older
    • 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