Williams syndrome, also called Williams-Beuren syndrome, is a rare genetic disorder. It causes multiple developmental problems, including heart and blood vessel issues (including narrowed blood vessels), musculoskeletal problems, and learning disabilities. According to the Williams Syndrome Association, the disorder occurs in approximately one in 10,000 people (WSA).
Although a genetic link is present, an individual may be born with the syndrome without having a family history of it. According to the National Institute of Neurological Disorders and Stroke, random genetic mutations, not heredity, usually cause the condition. Affected individuals do, however, have a 50 percent chance of passing it on to their children (NINDS).
Scientists found that a deletion in chromosome 7 causes this condition. The deleted section contains approximately 25 genes (NINDS). The gene elastin, which gives elasticity to the blood, is one of the missing genes. Without it, disorders of the circulatory system and heart defects are common.
A syndrome is a set of symptoms that occur together. In some medical syndromes, the condition is not always apparent when an individual is born. As symptoms start to develop, your doctor can take note of them and make an appropriate diagnosis. Williams syndrome is a condition made up of specific symptoms that significantly impact health and development.
Common symptoms of the condition include:
- specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips
- colic or feeding problems
- attention deficit disorder
- learning disorders
- inward bend of pinky finger
- specific phobias
- short stature
- speech delays
- sunken chest
- varying degrees of mental retardation
- low birth weight and muscle tone
- kidney abnormalities
Personality traits common in individuals with the condition include an interest in music, aversion to physical contact, being overly friendly, and sensitivity to loud noises.
The condition can typically be diagnosed by physical characteristics. The diagnosis can be confirmed by doing a test called FISH, or fluorescent in situ hybridization. This is a lab test that labels DNA sequences with a chemical that lights up under ultraviolet light. This enables scientists to see if the gene is missing or not.
Other tests to help diagnose the condition can include a kidney ultrasound, blood pressure check, and an echocardiogram.
Tests can also show high blood calcium levels, high blood pressure, slack joints, and unusual patterning in the iris of the eye.
There is no cure for Williams syndrome. Treatment involves easing the symptoms connected to the syndrome.
Narrowed blood vessels can be treated if they cause symptoms. Physical therapy and speech therapy can be beneficial.
Typically, treatment is based on the individual’s symptoms. There is no standard treatment protocol. Regular checkups are necessary to evaluate the cardiovascular system and monitor any possible problems.
People with Williams syndrome should avoid taking extra calcium and vitamin D. This is because blood levels of these substances are already high.
Medical conditions can affect the lifespan of those with Williams syndrome. Calcium deposits can cause kidney problems, and narrowed blood vessels can cause heart failure. The majority of affected individuals have some degree of mental retardation. Learning self-help skills and getting early intervention in school can help encourage independence. Some people with Williams syndrome will need to live with a caregiver or in supervised homes.
There is no known prevention for Williams syndrome. Individuals with a family history of the condition can choose to undergo genetic counseling before conceiving a child. Talk to your doctor about whether this is appropriate for you, and what your chances are of having a child with the condition.