Williams–Beuren syndrome

Williams syndrome
Williams–Beuren syndrome (WBS)
A 21 and 28 year old who have Williams syndrome
Specialty	Medical genetics, pediatrics
Symptoms	facial changes, intellectual disability, overly friendly, short
Duration	life long
Causes	genetic
Differential diagnosis	Noonan syndrome, fetal alcohol syndrome, DiGeorge syndrome
Treatment	various types of therapy
Frequency	1 in 7,500 to 1 in 20,000
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Williams syndrome (WS) is a developmental disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose, and full cheeks, an appearance which has been described as "elfin". Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and fewer problems with language are typical. Those affected often have an outgoing personality and interact readily with strangers. Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common.

Williams syndrome is caused by a genetic problem, specifically a deletion of about 27 genes from the long arm of chromosome 7. Typically this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases it is inherited from an affected parents in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.

Treatment includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth.Life expectancy is less than that of the general population mostly due to the increased rates of heart disease.