Williams syndrome

6-minute read

Key facts

Williams syndrome is a rare genetic condition present from birth.
People living with Williams syndrome share similar facial features.
They experience developmental delays and are affected by health problems later in life.
To diagnose Williams syndrome, your doctor will do a blood test.
There is no cure for Williams syndrome and treatment focuses on managing symptoms and health complications.

What is Williams syndrome?

Williams syndrome is a rare genetic condition present from birth. It happens when a small piece of chromosome 7 is missing. There is no cure for Williams syndrome. Treatment can help manage the symptoms, especially if you start it early.

What are the symptoms of Williams syndrome?

People living with Williams syndrome can have developmental delays. They have distinctive facial features in early childhood. They may also have health problems and mental health challenges. There are some characteristic behaviours and personality traits common among people living with William syndrome.

Often people living with William syndrome are shorter in height.

Early Development

Developmental delays are often seen early in life and may include some of the following:

Feeding difficulties in young babies may lead to slow weight gain or weight loss.
Visual-spatial developmental delays make drawing and doing puzzles more challenging than for other children.
Walking and talking delays (1 - 2 years later than expected).
Problems with coordination.
Learning disabilities.

Young children with Williams syndrome may have speech delays, but often they develop excellent vocabulary. Speech becomes one of their strengths. They may also excel in music and learning by repeating and memorising.

Facial features

Young children can have a distinctive facial appearance:

short nose with a broad tip
broad forehead
full cheeks and lips
wide mouth
problems with their teeth

Sometimes this is known as an 'elf-like' facial appearance. As children grow up and become adults their faces become longer and thinner.

Personality

People with Williams syndrome often have social and engaging personalities. They are likely to be interested in other people and are very outgoing. Children often struggle to get on with other children their age. They may prefer to be around adults.

Health problems

As people living with Williams syndrome get older, they can have:

heart problems that can cause shortness of breath, chest pains and heart failure
high blood pressure
high levels of calcium in the blood (hypercalcaemia)
vision problems
digestive tract (gut) issues
urinary problems
issues with connective tissue (which support your joints and organs), including joint problems and soft or loose skin

Mental health

Mental health symptoms common in people with Williams syndrome include:

attention deficit hyperactivity disorder (ADHD)
anxiety
phobias

Adults often experience social isolation and depression later in life.

Hypersensitivity to noise

Children with Williams syndrome become distressed when they hear sudden loud noises. This could include a starter's gun, balloons popping or fireworks.

How is Williams syndrome diagnosed?

Your doctor can diagnose your child with Williams syndrome by doing a blood test. This blood test checks if your child is missing some genes on chromosome 7.

Your doctor might recommend this blood test after observing and examining your child. The doctor may have noticed symptoms that are common in people with Williams syndrome. These include:

physical features
behaviours
developmental delays
health problems

Living with Williams syndrome

There is no cure for Williams syndrome. Treatment focuses on managing each child's symptoms.

Children living with Williams syndrome will have therapies and treatment from various specialist doctors and allied health professionals.

Some therapies you child may receive include:

Not all children need every therapy or treatment offered. Research shows it is very important to start treatment as early as possible.