Williams syndrome is a rare genetic disorder caused by a missing chromosome seven. Symptoms include “elf-like” facial features, mental retardation, and musical and verbal skills. Those with the disorder are also prone to cardiovascular problems, left-handedness, and love of music. There is no cure, but symptoms can be treated.
Williams syndrome (WS), also called Williams-Beuren syndrome (WBS), is a genetic neurodevelopmental disorder in which chromosome seven is missing about 26 genes. The disorder is named after Dr. JCP Williams of New Zealand, who first identified it in 1961. The disorder is rare, affecting only one in 7,500-20,000 people.
Williams syndrome sufferers are characterized by “elf-like” facial features and a low nose bridge, a very sociable and cheerful demeanor, and mental retardation coupled with musical and verbal skills. They are also prone to cardiovascular problems, including stenosis of the aortic or pulmonary valve, a heart malformation that impedes blood flow, and hypercalcemia, or high blood calcium levels. Those with WS also tend to be left-handed and left-eyed dominant. There is currently no cure for WS, although symptoms, such as cardiovascular problems, can sometimes be treated or relieved.
Babies born with Williams syndrome often have a low birth weight and are slow to gain weight. As adults, they are typically smaller than average. Low muscle tone, lax joints, and joint stiffness are also common, although physical therapy can help alleviate such problems. Due to low muscle tone, people with WS are also prone to inguinal hernias. Kidney and dental malformations are also common in those with Williams syndrome, and children who suffer often show feeding difficulties due to dental abnormalities and low muscle tone.
People with Williams syndrome have difficulty with spatial relationships and visual processing. They also tend to lack common sense and are very comfortable around strangers. Those with WS are known to be unusually friendly, polite, and cheerful, and enjoy talking to others. However, they also often have higher anxiety levels than others and are more prone to phobias. Attention deficit disorder is another common problem.
One of the most striking characteristics of those with Williams syndrome is their love of music. People with WS are more likely than others to have perfect pitch, and many are very musically talented. However, they are also prone to hyperacusis or increased sensitivity to certain sounds, such as high-pitched sounds. Phonophobia, the fear of loud sounds, is also common in people with Williams syndrome. These hearing impairments are similar to those that affect people with noise-induced hearing loss and may be due to a malfunction of the auditory nerve. Hyperacusis can also be a cause of the high levels of anxiety common to those with Williams syndrome.
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