Williams Syndrome
What are the characteristics of Williams syndrome? Information about the causes, symptoms, and most effective treatments.
Symptoms and Causes
Williams syndrome (WS) is caused by a genetic alteration that is present from birth. As a rare disease, it is unfamiliar to much of the population, which is why it is estimated that many affected individuals remain undiagnosed.
People with Williams syndrome exhibit various medical problems that primarily affect the cardiovascular system. They also tend to display distinct personality traits, notably marked sociability and a talent for the arts, especially music.
Since there is currently no cure for this syndrome, managing its complications requires lifelong treatment aimed at reducing symptoms and improving the patient’s quality of life. For this reason, early diagnosis is essential to tailor therapy from the outset.
Symptoms
Williams syndrome presents differently in each person. Although all patients share certain genetic traits, each develops a unique set of symptoms. The most common include:
• Hypercalcemia
• Stenosis (narrowing) of blood vessels
• Constipation
• Reflux
• Enuresis (urinary incontinence)
• Strabismus
• Muscle laxity
• Inguinal hernias
Individuals with this syndrome often have a very distinctive physical appearance, including a starburst pattern in the iris, a short nose, narrow forehead, small chin, and prominent lips. Behaviorally, they may exhibit anxiety, gregariousness, disinhibition, cognitive impairment, and learning difficulties.
Causes
Williams syndrome is caused by a deletion on chromosome 7—specifically, the loss of genetic material from this segment of DNA. This alteration results in the absence or incomplete development of between 20 and 40 genes.
Risk Factors
A family history of the condition is the main risk factor for developing Williams syndrome, as it is inherited in an autosomal dominant pattern. This means that a person with the syndrome has a 50% chance of passing it on to each of their children.
Complications
Williams syndrome leads to a range of health issues (chronic pain, kidney failure, nephrolithiasis, or sensory difficulties), which reduce both quality of life and life expectancy. Affected individuals usually require ongoing medical care and constant monitoring.
Prevention
There is no known way to prevent Williams syndrome.
What type of doctor treats Williams syndrome?
Geneticists are the specialists responsible for diagnosing Williams syndrome. Psychologists and physical therapists then support patients in their development. To address the various complications, physicians specializing in each specific condition will also be involved.
Diagnosis
Williams syndrome is often suspected before birth due to the detection of heart or renal artery malformations during routine ultrasounds. After birth, the diagnosis is confirmed based on the infant’s physical characteristics and through the following tests:
- Fluorescence In Situ Hybridization (FISH) or microarray analysis: molecular genetic tests that detect alterations on chromosome 7.
- Flood and urine tests: to identify elevated calcium levels.
- Echocardiogram: to assess the condition of the heart.
- Kidney X-ray: to detect abnormalities.
Over time, additional exams will be necessary to monitor disease progression and evaluate affected organs.
Treatment
There is no cure for Williams syndrome, but symptoms can be managed through cognitive stimulation therapy, physical therapy, psychomotor therapy, speech therapy, or psychological counseling. Patients typically require continued support into adulthood to help them live as independently as possible. In some cases, surgery may be needed to treat kidney or heart issues.
It is advisable to monitor blood pressure and avoid calcium or vitamin D supplements.
