🔗 Williams syndrome

🔗 Medicine 🔗 Medicine/Neurology 🔗 Medicine/Medical genetics

Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as "elfin". While mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing is typical, verbal skills are generally relatively unaffected. Those affected often have an outgoing personality, interact readily with strangers, and appear happy. Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common.

Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. 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 parent 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.