DESCRIPTION
Williams syndrome occurs in both sexes. One in every 10,000 to 20,000 babies born in the United States has this condition.
Symptoms can vary widely among patients. They can be mild or more severe. Some common ones include:
- Medical concerns
- Emotional issues
- Anxiety
- Learning differences
- Hypersociability: (outgoing, very social and friendly even to strangers)
CAUSES
Most cases of Williams syndrome occur spontaneously due to a genetic change.
Specifically, it can be caused by a deleted portion of chromosome 7. As a result, genetic material is missing from the long arm of the chromosome. This region is known as 7q11.23.
Chromosomes carry our genes. We have 46 chromosomes in total. They are arranged in 23 pairs. We inherit one copy in each pair from our parents. Studies have shown that about 28 genes present in chromosome 7 play a role in Williams syndrome.
Williams syndrome is an autosomal dominant disorder. This means only a single copy of an abnormal gene can cause the disease. This gene can come from either parent. The risk of passing the abnormal gene to children is 50% during each pregnancy.
LABORATORY INVESTIGATIONS
Williams syndrome is often diagnosed during early childhood with:
- A complete medical history
- A physical exam
If this condition is suspected, your doctor will perform genetic testing. They will look for chromosome 7q11.23 gene deletion.
A doctor will usually perform additional tests to look for complications. These include:
Electrocardiogram (EKG) and echocardiogram (echo).
Blood tests.
Magnetic resonance imaging (MRI).
TREATMENT AND THERAPIES
Williams syndrome is a disease that affects multiple body systems. There is no cure.
Management is aimed at relieving symptoms. Care from a variety of doctors is often recommended. Based on the symptoms, your doctor will coordinate with the appropriate specialists.
Patients with cardiac complications often need surgery. They will require close follow-up with a cardiologist to look for further complications.
An endocrine doctor will often manage complications including:
- High calcium levels
- Low levels of thyroid hormones
- High glucose levels
- Poor growth
Developmental therapy can help support your child as they grow. Common therapies include:
- Physical therapy
- Occupational therapy
- Speech therapy
Patients may need medication and specific therapies for behavioral problems including:
- ADHD
- Anxiety
- Phobias
Other ways of managing Williams syndrome include:
- Back bracing and/or surgeries. This may be needed to treat scoliosis.
- An individualized education plan, special education supports
- Psychosocial support for families
Resources
Williams Syndrome Association
The Williams Syndrome Association (WSA) works hard to advance the interests of all individuals with Williams syndrome throughout their lifespan by providing programming and resources, supporting research, promoting partnerships and connections, and ensuring that the infrastructure of the organization has the capacity to lead the WS community toward its goals.
