 | | | | Medical Health Encyclopedia | |
Williams syndrome
Definition:
Williams syndrome is a genetic disorder characterized by mild mental retardation, distinctive facial appearance, problems with calcium balance, and blood vessel disease. Alternative Names:
Williams-Beuren syndrome Text Continues Below
Causes, incidence, and risk factors:
Williams syndrome is a genetic disorder characterized by developmental delay, unusual facial appearance, narrowing of the aorta (large artery that leaves the heart) and particular cognitive and personality profiles. It is a rare condition caused by missing genetic material on one copy of chromosome 7. The problem is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each child. It occurs in about 1 in 20,000 births. One of the missing genes is the gene that produces elastin, a protein that gives elasticity to blood vessels and other tissues in the body. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
| 
.gif)
