A rare genetic condition that causes unique physical features and delays in cognitive development, and may cause cardiovascular problems, is called Williams syndrome. Those who suffer from this syndrome usually live normal lives but often develop adverse reactions that worsen the condition.
This genetic disorder is also known as Williams-Beuren syndrome, and it may cause poor growth and neurologic development in childhood. Almost every adult with this syndrome is shorter than the average and may also develop endocrine problems. These include increased Calcium levels in the blood and urine, an underactive thyroid gland (also known as hypothyroidism), and early puberty.
According to studies, this syndrome happens when a part of chromosome 7 is missing. As a result, most people develop it on their own but do not inherit it from their biological parents. However, there is a 50% chance of passing the disease to your children.
Generally, it is a rare disease that affects 1 in every 10,000 children in the U.S.
How Does Williams Syndrome Affect My Child?
The symptoms of this syndrome usually appear over time. Sometimes, with early diagnosis and proper treatment, children may experience mild symptoms only. It means they reach their full potential without neurological or physical problems.
In other cases, children may develop defects during pregnancy that affect the heart or blood vessels. Furthermore, children with Williams syndrome usually have strong communication and verbal skills that frequently mask problems in their cognitive abilities. Generally, they have an excellent memory but often experience attention-deficit/hyperactivity disorder (ADHD).
Symptoms
Children with this condition usually experience different symptoms that range in severity. Check some examples below:
- Dental problems (including poor enamel, small or missing teeth, and others)
- Chronic ear infections or even deafness (hearing loss)
- Increased Calcium levels in the blood
- Endocrine problems (such as an underactive thyroid gland, early puberty, or diabetes)
- Farsightedness
- Feeding problems
- Scoliosis
- Sleep disturbances (insomnia)
- Gait (also known as unsteady walk)
However, there are a lot of health conditions that cause similar symptoms to Williams syndrome.
Developmental Delays
Frequently, children with this genetic disorder do not reach the developmental milestones that most children reach by a certain age. It affects how your child learns, speaks, plays, thinks, moves, and behaves. You may notice delays in the following milestones. For example:
- Learning (mild to moderate intellectual difficulties)
- First words or talking
- Walking or sitting due to hypotonia
- Socializing (including excessive empathy, phobias, anxiety, attention issues, being very friendly, and others)
Severe Symptoms of Williams Syndrome
In some cases, children may develop an advanced form of this syndrome, which often causes severe symptoms. One of them is cardiovascular disease (including narrowing of different blood vessels, high blood pressure, arrhythmia, cardiac failure, and others).
In addition, this syndrome usually causes changes in the physical characteristics. These include:
- Large ears
- Full cheeks
- Upturned nose
- Small jaw
- Short height
- Prominent lips
- Wide mouth
- Epicanthal folds (these are vertical skin folds that cover the inner part of the eye corners)
Causes
The main cause of this syndrome is the absence of a small part of chromosome 7. In normal circumstances, the body has 46 chromosomes that are arranged into 23 pairs. During pregnancy, babies receive one copy of a chromosome in each pair from their biological parents. These genes contain instructions that tell cells when to grow, multiply, function, and die.
In other words, when a part of chromosome 7 is missing, it is like a book is missing some pages. As a result, chromosome 7 cannot work properly, which leads to Williams syndrome.
What Are The Possible Complications of Williams Syndrome?
Those who suffer from this condition may also experience some complications, especially if they do not get treatment. Check some examples below:
- Developmental delays
- Endocrine issues
- Connective tissue irregularities
- Deafness
- Urinary tract abnormalities
- Changes in the facial characteristics
- Sleep disorders
- Hypercalcemia
- Intellectual disability
- ADHD
- Personality changes
- Supravalvar aortic stenosis
- Otitis media
- Joint problems
This document does not contain a full list of complications that people with Williams syndrome may experience. For more details, discuss it with your doctor.
How to Reduce the Risk of Williams Syndrome?
Generally, it is not possible to prevent this condition, but you can take steps to reduce the risk. If you plan to become pregnant, it is advised to discuss with your healthcare professional about genetic testing. It helps determine the chances of passing the condition to your child.
Diagnosis
Usually, this syndrome is diagnosed in infancy or during early childhood. Doctors perform a physical examination to check for abnormalities linked with the disease and genetic testing to check for abnormal genes. Additional tests are often required to check for symptoms of other conditions. These include:
- Echocardiogram (ultrasound of the heart) – this test helps identify abnormalities in the structures of the heart.
- Electrocardiogram (EKG or ECG) – This is a quick test used to measure the electrical activity of the heart.
- Blood pressure measurements
- Urine or blood tests – These tests are used to check the function of the kidneys and other organs.
Treatment
If you are diagnosed with Williams syndrome based on physical symptoms or positive genetic test results, doctors may refer you to other specialists (such as a genetic counselor) to explain the disease.
While it is not possible to cure this syndrome, doctors prescribe treatments to reduce the symptoms and prevent serious complications. Usually, treatments are different among children with this syndrome because it depends on several factors. These include:
- Heart evaluation results
- Developmental delays and learning problems
- The amount of Calcium that builds up in the blood
Frequently Asked Questions
When should I visit the ER?
Immediately go to the nearest emergency room (ER) or call 911 in the U.S. if you notice your child experiences the following symptoms. Examples include:
- Feeding problems
- Swelling
- Fast heart rate
- Difficulty or quick breathing
- Purple or blue tone to the lips or skin
What is the life expectancy of a child with Williams syndrome?
Usually, most children with this syndrome have a normal lifespan. However, if they develop a severe form of the disease, their life expectancy may be affected. It often happens when children develop cardiovascular diseases.
What are the facial features of Williams Syndrome?
People who develop this syndrome usually have differences in facial appearance. These include a broad forehead, a short upturned nose, full cheeks, a wide mouth, full lips, and others. Some children may also develop a flat nasal bridge or puffy eyes. If you have additional questions, ask your healthcare provider.
