Williams-Beuren syndrome

• 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 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

Images

Low nasal bridge

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Williams syndrome Overview

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Williams syndrome Treatment

Review Date: 10/14/2009
Reviewed By: Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)