About Williams syndrome

Williams syndrome is a lifelong genetic condition.

Williams syndrome happens when a gene that’s usually found on chromosome 7 is missing. In most cases, this genetic change happens by chance. Williams syndrome isn’t usually inherited.

Williams syndrome is a rare condition that happens in 1 in 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, with joint stiffness sometimes developing 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.

Some children with Williams syndrome go through early puberty.

Intellectual ability signs
Many people with Williams syndrome have intellectual disability.

Children with Williams syndrome often have speech delay. For example, their first words might come as late as 3 years old. Children then usually develop relatively good verbal abilities, which can be used to help with other areas of learning.

And children with Williams syndrome often have:

• 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 and teenagers with Williams syndrome often have:

• a very friendly nature and readiness to trust strangers
• fewer inhibitions in social situations than others
• anxiety and phobias
• attention deficit hyperactivity disorder (ADHD)
• difficulty reading social cues and understanding people’s feelings
• 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
• low birth weight and failure to thrive
• feeding problems including colic and reflux
• an underactive thyroid gland
• problems with their urinary tracts
• increased risk of type-2 diabetes
• vision problems
• elevated blood calcium levels in childhood
• sensitive hearing.

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

Diagnosis and testing for Williams syndrome

Health professionals diagnose Williams syndrome by looking at the physical and other signs and symptoms listed above.

They can confirm the diagnosis with genetic testing.

Early intervention services for children with Williams syndrome

If your child has Williams syndrome, early intervention is the best way to support their 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 and other carers 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 occupational therapists, paediatricians, physiotherapists, psychologists, special education teachers and speech pathologists.

Working in partnership with your child’s professionals is very important. 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 and teenagers with Williams syndrome

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

Looking after yourself and your family

It’s important to look after yourself physically, mentally and emotionally. 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. Your GP is there to give you and your child ongoing care and support.

A genetic counsellor might be able to help you understand how the change in your child’s genes happened. They can also help you learn about the condition and adapt to having a genetic condition in your family.

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.