What is Williams syndrome?
Williams syndrome is a genetic disorder that affects approximately one in 25,000 births. Early intervention is the key to a long lifespan with this disease and can it also improve quality of life.
Williams noticed a pattern in some of the children at his hospital receiving treatment for cardiovascular problems. These children shared traits like similar facial features and an unusually friendly and outgoing demeanor.
Williams syndrome is also called:
- Beuren Syndrome
- Early Hypercalcemia Syndrome with Elfin Facies
- Elfin Facies with Hypercalcemia
- Hypercalcemia-Supravalvar Aortic Stenosis
- Williams-Beuren Syndrome
Signs and symptoms of Williams syndrome
Young children with Williams syndrome often have broad foreheads, short and broad noses, full cheeks, and wide mouths with full lips.
People with Williams syndrome tend to be outgoing and very interested in other people. They are very empathetic toward others but also have high anxiety, often accompanied by phobias. Attention deficit disorder (ADD) is also common among people with Williams syndrome.
The genetic code missing from chromosomes can cause large blood vessels to be too narrow. This form of cardiovascular disease is called supravalvular aortic stenosis (SVAS) and occurs frequently in people with Williams syndrome.
Children with Williams syndrome often have issues with visual-spatial tasks like drawing or completing puzzles. Learning disabilities, memory problems, and developmental delays are also common.
Additional symptoms of Williams syndrome may include:
- Weak joints
- Loose skin
- Higher blood-calcium levels during infancy
- Problems with coordination
- Short stature
- Vision and eye problems
- Urinary and digestive problems
- Dental problems
Types of Williams syndrome
Williams syndrome doesn’t have defined variations, but it does manifest differently in each individual person affected. There are other disorders whose symptoms are very similar to Williams syndrome.
Some of those conditions include:
- Noonan syndrome – children display similar facial characteristics to those with Williams syndrome
- Idiopathic infantile hypercalcemia – causes high blood calcium levels in infants
- Leprechaunism – affects proper growth, leaving children with unusually short arms and legs
- Pulmonary artery stenosis – narrows the blood vessels that carry blood to the heart
- Ventricular septal defects – usually causes a fast heart rate and rapid breathing, although these defects often resolve over time
- Attention Deficit Hyperactivity disorder – shortened attention span and compulsive behavior
What causes Williams syndrome?
Williams syndrome occurs when genetic code is missing from chromosome 7, which contains approximately 25 genes. Because of this, people with Williams syndrome don’t produce enough proteins like elastin, which give tissues in the heart, lungs, and blood vessels their elastic quality.
This is the reason for several of the cardiovascular and physical characteristics most associated with Williams syndrome.
How is Williams syndrome diagnosed?
Your doctor will ask questions about the symptoms you or your child exhibits that are similar to Williams syndrome. Diagnoses will also include:
- A physical exam assessing features associated with the condition
- An echocardiogram to monitor blood flow within arteries to heart muscle and the thickness of heart muscles
- A DNA blood test to check for the missing genes
There are two tests used to confirm a diagnosis of Williams syndrome. The first is a fluorescence in situ hybridization (FISH) test that is used to map the genetic material in a person’s cells.
The second, a chromosomal microarray, uses millions of markers to determine what pieces of DNA are missing or where there are extra pieces of DNA. This provides a better idea of how severely a person will be physically and mentally impacted by the condition.
When to see a doctor for Williams syndrome
Williams syndrome is most often diagnosed in children. If you have a child who exhibits any symptoms of Williams syndrome, talk to your doctor. Early intervention is the key to a long lifespan with this disease and can it also improve quality of life.
Treatments for Williams syndrome
While more severe cardiovascular symptoms can affect the life expectancy for people with Williams syndrome, infants and children who receive a diagnosis can live long lives with proper treatment.
Treatment plans will be individualized based on the symptoms and severity of the case. Treatments include:
- Feeding therapy for infants with feeding problems
- Physical therapy for weak muscles or developmental delays
- Special education programs for children with developmental delays
- Behavioral counseling
- Medication for attention deficit disorder and/or anxiety
- Surgery to address life-threatening heart deformities
- Medications or diet modifications for excess calcium in the blood