What Is Williams Syndrome?
Williams syndrome (WS), also called Williams-Beuren syndrome (WBS), is a rare genetic disorder that causes a variety of symptoms throughout the body. If your child's been diagnosed with this condition, they may have issues with their blood vessels and organs such as their heart and kidneys. Williams syndrome also causes unique physical features, as well as certain developmental and intellectual disorders.
There's no cure for Williams syndrome. But the right treatment plan can help manage your child's symptoms and support them when they have challenges in their daily life.
Down syndrome vs. Williams syndrome
These are both genetic conditions caused by random issues with cell division. And they share some similar symptoms, such as issues with the heart and nervous system. But Down syndrome (DS) is caused by an extra copy of a chromosome (the "thread" inside each of your cells that contains your genes), while Williams syndrome is due to a section of missing chromosome.
What Causes Williams Syndrome?
You have 46 chromosomes (23 pairs) in each of your cells. You can think of these as your body's operating instructions. One specific strand, chromosome 7, contains about 5% of all your DNA.
Babies with Williams syndrome are born without a section of chromosome 7 that contains between 25 and 27 genes. The symptoms your child will have depends on which of these genes are missing. For example, being born without a gene called ELN can lead to heart and blood vessel issues.
So how does part of this chromosome go missing? The issue starts in the sperm or egg before they even meet up. In a small number of cases, babies with Williams syndrome can inherit the genetic deletion from a parent with the condition. But most of the time, it's usually a random glitch in the genes.
How common is Williams syndrome?
This is a rare genetic disorder that affects about 1 in every 7,500 to 10,000 people. Experts estimate that about 20,000 to 30,000 Americans have Williams syndrome.
Who does Williams syndrome affect?
Williams syndrome affects both babies who are assigned female at birth (AFAB) as well as those assigned male at birth (AMAB.) Babies of all ethnicities and races can be born with this condition.
Your risk of having a child with Williams syndrome is higher if you or the other parent has a chromosomal change called an inversion around chromosome 7. But there's no way of knowing this without genetic testing.
Williams Syndrome Symptoms
If you have Williams syndrome, you can have a wide variety of symptoms and physical features. You could have a few or many, and they can be severe or mild. Everyone is different.
Some common signs of Williams syndrome include:
- Unique personality
- Unique facial features
- Chronic ear issues
- Being very sensitive to sound
- Heart problems
- Attention deficit hyperactivity disorder (ADHD)
- Sleep disorders
- Developmental delays
- Intellectual disabilities
- Unusually small teeth
- Extremely flexible joints
- Lower-than-average height
- Soft, loose skin
Williams syndrome facial features
Newborns who have this genetic condition often have "elfin-like" features. Besides an unusually small head, you could notice some or all of the following:
- Wide forehead
- Broad, flat nose or an upturned nose
- Wide mouth with full lips
- Small chin
- Folds over the corners of the eyes
- White starburst pattern around the iris, or colored part of the eye (this may be hard to see in dark-colored eyes)
- Eyes that appear slightly inward
- Puffy skin around the eyes
Children with Williams syndrome can have small, widely spaced teeth or teeth that are missing or crooked. Adults with this condition often have a long face and neck.
Williams syndrome personality
Everyone is different, but kids with Williams syndrome are often described as:
- Outgoing
- Talkative
- Overly friendly (for instance, going up to a stranger who seems dangerous)
- Empathetic (able to understand how others are feeling)
- Anxious
- Having phobias (intense fears about specific things)
- Finding it hard to control their emotions
ADHD is common. Some kids may also have personality traits that overlap with autism spectrum disorder, such as only being interested in a few specific things or doing the same behavior over and over.
Developmental delays
Children with Williams syndrome can have:
Growth delays. Babies often have low birth weight. They may not nurse or take a bottle well, and struggle to gain weight and grow at a healthy pace. It's common to notice signs such as gagging, diarrhea, constipation, and throwing up.
Typically, this delay in growth lasts until your child is around 4 years old. Then, they might have several growth spurts between the ages of 5 and 10. But adults with Williams are often shorter than most people.
Motor development delays. Your child may take longer to figure out how to reach milestones such as sitting and walking. The average age for a child with Williams syndrome to walk and talk is 21 months.
Fine motor skills delays. Small precise movements, such as picking up a pen, are often harder for a child with Williams to master.
Heart problems
Issues with the heart and blood vessels are often the first signs of Williams syndrome. They can include:
Supravalvular aortic stenosis (SVAS). Around 75% of children with Williams have a congenital heart defect (CHD). This is the most common type. Part of the aorta, the main artery that carries blood from the heart to the rest of the body, may be narrowed. This can cause symptoms such as fatigue, chest pain, dizziness, and passing out.
Pulmonary stenosis. The pulmonary arteries that carry blood from the heart to the lungs also may be narrowed.
Artery stenosis. Narrowed arteries don't let as much oxygen-rich blood reach the heart and body.
Mitral valve prolapse. With this condition, a heart valve doesn't close as tightly as it should. This can cause blood to leak into other spaces of the heart, which can lead to more cardiac problems.
Heart arrhythmia. This is the term for an irregular heartbeat. If left untreated, it can get worse and cause serious issues, including heart failure.
High blood pressure. Also known as hypertension, this is common in adults with Williams syndrome.
Learning differences
About 75% of kids with Williams syndrome have a mild intellectual disability which can limit their ability to understand the world around them. As a result, learning issues are common and can range from mild to severe.
On the other hand, lots of children with Williams syndrome have very good memories and learn new things quickly. They tend to speak and read well and often have musical talent.
Other possible Williams syndrome symptoms
It's also common to have:
- Curved spine, called scoliosis
- Ear infections
- Early puberty
- Hernia
- High levels of calcium in the blood
- Hoarse voice
- Joint and bone problems
- Kidney problems
- Urinary tract infections
- Sunken breastbone
- Awkward or unsteady gait (way of walking)
- Thyroid gland issues
Williams Syndrome Diagnosis
To diagnose Williams syndrome, your doctor will do an exam and ask about your family medical history. They'll look for facial features such as an upturned nose, a wide forehead, and small teeth.
Tests for Williams syndrome
If your doctor suspects Williams syndrome, they can order a blood test to confirm. This may be done in several ways.
FISH test. Your child might get a blood test called fluorescence in situ hybridization (FISH) to see if the ELN gene on Chromosome 7 is missing. Most people with Williams syndrome don't have it.
Chromosome microarray. This test, which is also called a chromosomal array, is a newer and more common way to check for Williams. It can look for missing DNA anywhere in your child's chromosomes. Unlike other tests, it can show exactly which genes are missing. This can help your doctor understand which symptoms your child is likely to have.
Your doctor may also order other tests to gather more information about what's going on inside your child's body.
For instance:
- An EKG or ultrasound can check for heart problems.
- A bladder and kidney ultrasound can check for urinary tract conditions.
- A urine (pee) test can check the health of their kidneys.
- A blood or urine test to check for high levels of calcium. Williams syndrome can lead to difficulty handling calcium, and too much calcium in the body can cause serious issues.
Because many health issues can develop over time, doctors will want to see your child regularly.
Williams Syndrome Treatment
Williams syndrome can't be cured, but treatments can help with symptoms and learning problems. Many different types of doctors can be involved in taking care of your child, including a:
- Cardiologist — a doctor who treats heart problems
- Endocrinologist — a doctor who treats hormone problems
- Gastroenterologist — a doctor who treats gastrointestinal problems
- Ophthalmologist — a doctor who treats eye problems
- Psychologist
- Speech and language therapist
- Occupational therapist
- Physical therapist
Some of the treatments your child might need:
- A diet low in calcium and vitamin D to bring down high calcium levels in the blood
- Medicine to lower blood pressure
- Special education, including speech and language therapy
- Physical therapy
- Surgery to fix a blood vessel or heart problem
Your child might need treatments for other symptoms, too.
Can You Prevent Williams Syndrome?
There's no way to prevent this condition because it's caused by a random change in your genes. But if you plan on starting a family, a genetic counselor can help you learn about your risk of having a baby with Williams syndrome.
This type of expert has special training in genetics. If you decide to have genetic testing, they can help explain the results and what they may mean for you and your family.
Living With Williams Syndrome
If you have a child who's been diagnosed with Williams:
Give them lots of love. They'll grow and explore the world at their own pace, so meet them where they are.
Keep in regular touch with your doctors. Different kinds of specialists may need to see your child regularly.
Explore extra help at school. Talk to your school's counselor about special plans, such as an Individual Education Plan (IEP), that could help your child succeed.
Gather information. Learn as much as you can about Williams syndrome. That will help you better speak up for your child when they need you to.
Look for local opportunities. Many communities and schools offer a range of programs and activities for kids with special needs. Give your child a chance to try new things.
Seek out positive support. Look for coaches, teachers, and assistants who focus on what your child can do, instead of what they can't.
Connect with others. Joining a community of other families who have a child with Williams syndrome gives you a network of support. You can meet others who are having similar experiences and share advice for daily challenges. Ask your doctor to help you find an online or in-person support group.
Take care of yourself. Self-care isn't a luxury. It's needed to help you recharge. If you're feeling stressed and burned out, you won't function at your best. Carve out time for yourself, even for a few minutes each day. Do your best to get enough sleep. And remember to ask for help when you need it.
Williams Syndrome Complications
It's common for Williams syndrome to cause many other health issues throughout your child's body. For instance, they may have problems with their:
- Ears (ongoing ear infections)
- Gastrointestinal tract (such as constipation or acid reflux)
- Muscles, joints, and bones
- Eyesight
- Kidneys
- Heart
- Thyroid
- Bowel
- Bladder
Williams syndrome isn't known to get worse over time. But your child's symptoms may change as they grow.
When to See a Doctor
Generally speaking, call your doctor if your child shows any symptoms that concern you. Keep an eye out for symptoms such as:
- Belly pain (babies may seem fussy and easily upset)
- Fatigue or low energy
- Constipation
- Vomiting
- Signs of an ear infection
- Trouble hearing
- Peeing more than usual
If you notice any of the following, take your child to the ER right away:
- Blue or purple skin
- Blue or purple lips
- Fast breathing at rest
- Rapid heartbeat at rest
- Swelling in different parts of their body
- Trouble eating, nursing, or taking a bottle
Trust your instinct. You know your child best. If you have a feeling that something isn't right, have it checked out.
Takeaways
Williams syndrome is a rare genetic disorder caused by a missing section of a chromosome. It causes unique facial features, physical symptoms, cognitive delays, and learning differences. Although children with Williams syndrome often have many health issues and everyday challenges, many thrive with support from their caregivers and doctors.
Williams Syndrome FAQs
What is the life expectancy for Williams syndrome?
Most people with Williams will live as long as others who don't have this genetic condition. But any health complications, such as a heart issue, may change that, so your doctor is the best person to answer this question.
Can people with Williams syndrome live alone?
Everyone with Williams syndrome is different. Some adults live on their own, while others live in a supervised facility or group home where they can benefit from daily support. Trusted nonprofits such as the Williams Syndrome Association or The Arc can help you better understand your options.