Williams syndrome (also known as Williams Beuren syndrome) is a rare genetic condition that affects 1 in 10,000 people worldwide. In the United States an estimated 20,000 to 30,000 are said to be affected by the condition, first identified in 1961 by the New Zealand doctor JCP Williams, after whom it was named. It occurs at birth and is caused by missing or faulty genes. It is thought ...
Williams syndrome (also known as Williams Beuren syndrome) is a rare genetic condition that affects 1 in 10,000 people worldwide. In the United States an estimated 20,000 to 30,000 are said to be affected by the condition, first identified in 1961 by the New Zealand doctor JCP Williams, after whom it was named. It occurs at birth and is caused by missing or faulty genes. It is thought to present equally in males and females, across every ethnic background. There may be no family history of the syndrome but those with condition have a 50 percent likelihood of it passing to their children; the cause usually occurs randomly.
Symptoms of Williams syndrome can vary; they are also progressive and may change over time. However it is usually characterized by unusual facial features, sometimes described as "elfin" or "pixie-like." These may exhibit as a flattened nasal bridge with small upturned nose, skin that covers the inner corner of the eye (called epicanthal folds) and prominent lips with an open mouth. Other physical aspects of the condition include a sunken chest (pectus excavatum) and being shorter in comparison to other family members.
More serious features of the syndrome are hypercalcemia (elevated blood calcium levels,) cardiovascular, growth and joint problems. Approximately 75 percent of people with Williams syndrome will suffer with narrowing of heart and blood vessels. It is believed this is due to a missing elastin gene, a protein that allows blood vessels and other tissues to stretch. Missing a copy of the elastin gene (genes come in pairs) is known as elastin arteriopathy. The degree of narrowing can vary from mild to severe and may result in high blood pressure, heart disease, and heart failure. Major organs such as the kidneys may also be affected by the narrowed blood vessels. These acute symptoms may be kept in check by regular monitoring and where necessary, treatment. The missing elastin gene may also be responsible for slack joints. In later life, the joints around the heel cords and hamstring may tighten, resulting stiffness when walking and a curving of the spine.
Developmental difficulties can include delayed speech, Attention Deficit Disorder (ADD), learning disorders and mild to moderate learning difficulties. Late development in some areas may be noted during infancy, where walking, talking and toilet training may be delayed. In older children there may be strong and weak areas intellecutally. Performance is usually strong in areas such as speech, long term memory, and social skills; that these children may have extensive vocabularies and a gift for music has also been observed. Their weaker areas may be math, writing and drawing due to less developed fine motor and spatial relations skills.
Diagnosis of the syndrome is variable. It can follow on from diagnosis in infancy of heart problems but could be left undiagnosed until early childhood, when teachers may notice learning difficulties or "slow learning." Physical examination and medical history may play a part in diagnosing the condition but due to the rarity of Williams syndrome, it is more likely to be diagnosed by a physician who has already encountered it before. DNA testing can uncover the syndrome, as can prenatal testing such as amniocentesis — although this would normally only be carried out if there were a family history of Williams syndrome.
The prognosis can vary according to each individual and their medical complications. For those with no severe heart problems the outlook is good. For these individuals, good medical care throughout life may help to prevent or manage other related problems, and they may well enjoy a long life. If severe heart disease of hypertension is present then the prognosis is less favorable. Most adults require caregivers and/or supportive housing, although some individuals with are able to live independently. In all cases, yearly medical examinations should be carried out to monitor and treat potential problems.
Treatment may require expertise in different specialities. In childhood, growth should be monitored using growth curves developed specifically for Williams syndrome. There should be annual evaluations by a cardiologist, including blood pressure checks in all four limbs and an echocardiogram of the heart. Blood calcium levels should be monitored bi-annually. In addition individuals with the syndrome should have a complete neurological examination. Although there is no cure for the condition, physical therapy for joint stiffness and speech therapy may be useful in relieving some of the symptoms.