What is Williams syndrome?
Williams syndrome is a rare genetic condition characterized by growth delays, distinct facial features, unique personality traits, and developmental delays. Many people with Williams syndrome have cardiovascular conditions, connective tissue problems, and endocrine abnormalities. This condition occurs sporadically in about 1 in 7,500 live births.
There is no way to prevent Williams syndrome, although risk may be higher in families with a history of Williams syndrome. People with Williams syndrome tend to be shorter than average and have distinctive facial features that become more pronounced with age. It is also associated with higher levels of calcium in the blood during infancy.
Treatment focuses on symptom management and early intervention strategies. Specialized tests may be needed to detect heart defects. Occupational and physical therapy can help people with Williams syndrome perform activities of daily living. Vocational training can also help integrate people with Williams syndrome into the workplace.
If you have a history of Williams syndrome, it may help to have genetic testing done if you want to conceive. Discuss options with your doctor during prenatal care if you are at a higher risk of having a child with Williams syndrome.
What are the symptoms of Williams syndrome?
It’s important to bring your child for regular medical care if they display any symptoms of Williams syndrome. Early detection of symptoms of Williams syndrome, especially heart abnormalities, can improve outcomes for children with this condition. It can also help your child get an accurate diagnosis.
Common symptoms of Williams syndrome
The most common symptoms of Williams syndrome are:
Chronic middle ear infections
Congenital heart defects
Delays in motor development
“Elfin-like” facial features
Extreme sensitivity to sound
Mild intellectual disability
Shorter than average height
- Unique personality traits
What causes Williams syndrome?
Most cases of Williams syndrome occur spontaneously, however some familial cases have been reported. Williams syndrome is caused by a missing piece on a region of chromosome 7. Williams syndrome can be passed to offspring in an autosomal dominant inheritance pattern. This means only one copy of the abnormal gene needs to be present for the syndrome to appear. The abnormal gene can be inherited from either parent. People with Williams syndrome have a 50% likelihood of passing the condition on to each of their children.
What are the risk factors for Williams syndrome?
When Williams syndrome occurs spontaneously there is no way to prevent the condition. However, prenatal testing can help couples with a history of Williams syndrome who wish to conceive. It’s important to see your doctor regularly to determine if specific genetic tests are needed based on your health and family history.
How do doctors diagnose Williams syndrome?
People suspected to have Williams syndrome will usually be seen by a medical geneticist to confirm a diagnosis. The geneticist will perform a physical exam and may order tests including:
Echocardiogram to check for heart irregularities
Blood pressure and kidney function tests
Genetic testing through a blood test
- Blood test to check calcium levels
What are the treatments for Williams syndrome?
Treatment goals for people with Williams syndrome include early intervention programs and therapies. Children with elevated calcium levels may be placed on a diet that restricts vitamin D and calcium or be prescribed a corticosteroid drug. Affected children with heart defects may require surgical intervention to repair the defect.
Special education services in schools and a supportive team approach can help make sure children with Williams syndrome reach their fullest potential. Speech therapy and physical therapy can also help support symptom management in children with Williams syndrome.
Caregiver tips for Williams syndrome
Caring for a child with Williams syndrome presents many challenges. It is important for parents and family caregivers to seek help when they need it, including online or in-person support groups to share experiences with other parents and families. Finding a center for disabled children or special education programs and schools can help ensure the needs of your child are met in a supportive environment.
What are the nutrition and feeding tips for Williams syndrome?
Feeding is dependent on the developmental level of a baby with Willams syndrome such as:
Gaining head/neck control
Sitting unsupported in a high chair
Munching with front teeth
Moving food to the sides of the mouth
- Jaw movement to grind food
Ask your healthcare provider for guidance when progressing your child from breastfeeding or bottle feeding to solid foods.
What are the potential complications of Williams syndrome?
The symptoms of Williams syndrome can have long-term effects on the body, particularly the heart and kidneys. Emotional issues can also develop over time.
Complications of Williams syndrome include:
Anxiety and phobias
Hypercalcemia, excess calcium in the blood, which can affect the kidneys
Pulmonary stenosis, narrowing of the blood flow from the heart to the lungs
Supravalvular aortic stenosis (SVAS), a narrowing of the aorta
- Ventricular septal defect (VSD), a hole in the heart that is present at birth. VSD or other congenital heart defects may be present in children with Williams syndrome and cause cardiovascular complications.
What are some conditions related to Williams syndrome?
Some medical conditions have similar characteristics as Williams syndrome including:
Noonan syndrome, a rare genetic disorder characterized by specific physical features and symptoms
Idiopathic infantile hypercalcemia, elevation of blood calcium levels in newborns with no cause
Leprechaunism, a rare inherited endocrine disorder characterized by overgrowth of the pancreas, insulin resistance, and excessive estrogen
How does Williams syndrome affect quality of life?
Adults with Williams syndrome typically lead healthy and happy lives and are productive members of their communities. Sometimes medical and neurodevelopmental conditions such as diabetes, anxiety, and depression can develop with age. People with Williams syndrome will often find college programs for people with differing abilities and work an average of 16 to 20 hours per week. There are many different supported living options for adults living with Williams syndrome. People with this condition may benefit from finding support through the Williams Syndrome Association.
Does Williams syndrome shorten life expectancy?
There is no cure for Williams syndrome, but symptoms can be managed across the lifespan. People with Williams syndrome have been reported to live into their 60s. Some people with Williams syndrome may have a shortened life expectancy because of cardiac complications of the syndrome. Your doctor will discuss your individual prognosis in the context of your diagnosis and medical history, and work with you to ensure the most successful treatment possible.