Williams-Beuren Syndrome: Signs, Symptoms, Treatment, Prognosis

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Williams-Beuren syndrome, also known as Williams Syndrome, is a form of rare genetic disorder that is characterized by mild to moderate learning difficulties or mental retardation, a unique personality combining high levels of empathy, anxiety, and over-friendliness, and distinctive facial features.

The main medical issue related to Williams-Beuren syndrome is cardiovascular disease due to a narrowing of the person's arteries. Williams-Beuren syndrome is associated with elevated blood calcium levels during a person's infancy as well.

A random genetic mutation involving the deletion of a small piece of chromosome 7, instead of inheritance, causes Williams-Beuren syndrome the majority of the time. There are people with the disorder; however, who have a 50% chance of passing it on to their children. Characteristic facial features of Williams-Beuren syndrome include:

• Full lips
• Small chin
• Full cheeks
• Wide mouth
• Puffiness around the eyes
• Short nose with a broad nasal tip

People with Williams-Beuren syndrome also many times have limited mobility in their joints, curvature of their spines, sloping shoulders, a long neck, and are short of stature. Some people with the disorder have a star-like pattern in the irises of their eyes.

Infants with Williams-Beuren syndrome are often times colicky and irritable and experience feeding issues that prevent them from gaining weight. Adolescents and adults with the disorder commonly experience chronic abdominal pain. By the age of 30, most people with Williams-Beuren syndrome also have pre-diabetes or diabetes, as well as mild or moderate, 'sensorineural,' hearing loss which is a form of deafness due to disturbed functioning of the person's auditory nerve.

For some people with Williams-Beuren syndrome, the loss of hearing may start as early as their late childhood years. Williams-Beuren syndrome is associated with a cognitive profile of mental strengths and weaknesses. The person's strengths include verbal short-term memory and language, while they also experience weakness in the area of, 'visuospatial construction,' or the skills a person uses to draw, copy patterns, or write.

'Supravalvular Aortic Stenosis (SVAS),' is a form of cardiovascular disease that occurs frequently in people who experience Williams-Beuren syndrome. SVAS involves the narrowing of the person's large blood vessel that carries blood from their heart to the rest of their body. If the condition remains untreated the aortic narrowing has the potential to cause the person symptoms that include chest pain, shortness of breath, and heart failure. Additional signs and symptoms of Williams-Beuren syndrome can include:

• Short stature
• Joint problems
• Soft, loose skin? High blood pressure
• Eye and vision issues
• Digestive tract issues
• Urinary system issues
• Developmental delays
• Problems with coordination
• Increased calcium levels in the blood

People with Williams-Beuren syndrome commonly experience difficulties with visual-spatial tasks including assembling puzzles and drawing, although they often do quite well with ones involving music, spoken language, or learning through rote memorization. People with this disorder have engaging, outgoing personalities and many times present an extreme interest in other people. Phobias, anxiety, and Attention Deficit Disorder (ADD) are among the health issues experiences by people with Williams-Beuren disorder.

For people who experience Williams-Beurens syndrome their strongest skills in the area of language involve concrete and practical vocabulary - something which many times are in the low-average to average range for the population in general. Their abilities with conceptually-related or abstract vocabulary are many times more limited. The majority of both children and adults with Williams-Beuren syndrome are fluent speakers who use good grammar. Greater than half of children with this disorder also experience ADD or ADHD, and half also experience specific phobias that include a fear of loud noises. Most people with Williams-Beuren syndrome also worry in excess.

Treatment and Prognosis of Williams-Beuren Syndrome

At this time there is no cure for Williams-Beuren syndrome; there is also no standard course of treatment for the disorder.

Due to the fact that Williams-Beuren syndrome is both a complex and uncommon form of disorder, a number of multidisciplinary clinics have been established at several centers in America. People who experience Williams-Beuren syndrome need consistent cardiovascular monitoring for potential medical issues including high blood pressure, symptomatic narrowing of their blood vessels, and heart failure.

People with Williams-Beuren syndrome have varying prognosis. A degree of mental retardation is present in the majority of people with the disorder, and while some adults with Williams-Beuren syndrome have the ability to live independently, completing vocational or academic school and living on their own or in supervised homes, the majority of people with this disorder live with a caregiver.

Parents of people with Williams-Beuren syndrome may increase the likelihood of their child being able to live semi-independently by teaching them self-help skills early. Individualized educational programs designed with distinct cognitive personality profiles of Williams-Beuren syndrome and early intervention can also assist people with the disorder to achieve their greatest potential. Medical complications related to Williams-Beuren syndrome unfortunately have the potential to shorten the life spans of some people who experience the disorder.

The early 1990's found researchers locating and identifying the genetic mutation that is responsible for Williams-Beuren syndrome. Deletion of a small section of chromosome 7, which contains approximately 25 genes, is involved. Research continues, and groups are trying to link particular genes with corresponding cognitive, facial, neurological, and personality characteristics of Williams-Beuren syndrome.

Williams Syndrome Changing Lives Foundation Newsletter

Author Credentials:

Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida.

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