Williams syndrome is a condition where many parts of the body are affected. It is a genetic abnormality where there is a deletion of approximately 27 genes from one of the long arms on chromosome 7s. It usually occurs as a random event when the egg or sperm is developing. In some cases, it can be inherited from a parent who is also affected as it is an autosomal dominant condition. The diagnosis is achieved via genetic testing. The treatment of Williams syndrome involves various therapies, special education programs, and surgery to correct cardiovascular issues.
Medications and dietary changes may be needed as well. Williams syndrome is named after John C. P. Williams who first described the syndrome in 1961. It affects 1 in 7,500 to 20,000 individuals at birth. The life expectancy among affected individuals is shorter compared to the general population, mostly because of the higher rates of cardiovascular disease.
Williams Syndrome Symptom #1: Heart Murmurs
Most of the patients affected with Williams syndrome tend to have some type of cardiovascular issue (blood vessel or heart issues). There usually is some narrowing in the aorta which produces aortic stenosis above the valves or narrowing of the pulmonary arteries. The range in the severity of the narrowing can be mild to severe.
Severe cases of aortic stenosis will require surgery to correct the defect. Since there is a higher tendency of the narrowing of the blood vessel, there can be high blood pressure. Monitoring and observation of the heart may be necessary.