What is Williams syndrome?

Williams syndrome is a genetic disorder.

It’s caused by having 26-28 genes missing from chromosome 7. In most cases, this happens by chance while the eggs or sperm are being formed in the parents’ bodies before conception. People living with Williams syndrome have a small chance of passing it on to their children.

Williams syndrome is a rare condition that happens in 1 in 7500-10 000 births.

This syndrome is sometimes known as Williams-Beuren syndrome. It was first described by Dr Williams and colleagues in 1961, and Dr Beuren in 1962.

Signs and symptoms of Williams syndrome

Physical characteristics
Young children with Williams syndrome have distinctive facial features. These include:

• a broad forehead
• a small, upturned nose
• full cheeks
• wide mouth with full lips
• a small chin
• puffiness around the eyes.

Other physical features include:

• low muscle tone and very flexible joints – joint stiffness sometimes develops as children get older
• short stature compared with other people in the family, although children sometimes catch up a bit in later childhood
• dental problems like small, widely spaced teeth, or crooked or missing teeth.

Intellectual ability signs
About three-quarters of people with Williams syndrome have intellectual disability. Many children with Williams syndrome also have:

• speech delay – a child’s first word might come as late as 3 years old. The child then usually develops relatively good verbal abilities, which can be used to help with other areas of learning
• developmental delays – for example, with walking and toilet training
• difficulties with fine motor skills
• difficulty with tasks like drawing or doing puzzles.

Behaviour signs
Children with Williams syndrome often have behavioural signs like:

• a very friendly nature and readiness to trust strangers
• fewer inhibitions in social situations than other children
• anxiety and phobias
• attention deficit hyperactivity disorder
• difficulty reading social cues – for example, when people are annoyed
• tantrums.

Medical concerns linked to Williams syndrome
People with Williams syndrome can have:

• problems with their hearts or blood vessels, which can range from minor to severe and needing surgery
• low birth weight and failure to thrive
• feeding problems including colic and reflux
• an underactive thyroid gland
• increased risk of type-2 diabetes
• vision problems
• elevated blood calcium levels in childhood
• sensitive hearing.

Children with Williams syndrome have strengths in areas involving speech, music and memory. They generally also have outgoing, social personalities.

Diagnosis and testing for Williams syndrome

Health professionals can diagnose Williams syndrome by looking for the syndrome’s key characteristics – distinctive facial features, heart problems, feeding difficulties and developmental delay.

They can confirm Williams syndrome with genetic testing.

Early intervention services for children with Williams syndrome

Early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.

Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot.

You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals might include paediatricians, psychologists, physiotherapists, speech pathologists, occupational therapists and special education teachers.

It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.

Financial support for children with Williams syndrome

If your child has a confirmed diagnosis of Williams syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

Although it’s easy to get caught up in looking after your child with Williams syndrome, it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child.

If you need support, you could start by talking with your GP or a genetic counsellor. You can also get support from organisations like William Syndrome Australia, Genetic Alliance Australia and Genetic Support Network of Victoria.

Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group.

If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.