Williams Syndrome, Causes, Signs and Symptoms, Diagnosis and Treatment.

Williams syndrome (WS) is a genetic disorder that affects many parts of the body.[3] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks.[3] While mild to moderate intellectual disability, with particular problems with visual spatial tasks such as drawing, is typical, verbal skills are generally relatively unaffected.[3] Those affected often have an outgoing personality, interact readily with strangers, and appear happy.[3][5] Problems with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.[2][3]

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.[3][5] Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops.[3] In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner.[3] The different characteristic features have been linked to the loss of specific genes.[3] The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.[2]

Treatment of WS includes special education programs and various types of therapy.[2] Surgery may be done to correct heart problems.[2] Dietary changes or medications may be required for high blood calcium.[2] The syndrome was first described in 1961 by New Zealander John C. P. Williams.[6][7] Williams syndrome affects between one in 20,000 and one in 7,500 people at birth.[5] Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.[4]

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