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What is Williams syndrome?
Williams syndrome is a genetic condition present from birth that occurs because a small piece of chromosome 7 does not form properly after conception. Williams syndrome can’t be cured, but treatment can help manage the symptoms, especially if started early.
What are the symptoms of Williams syndrome?
Williams syndrome can cause delays in a child’s development and learning. They can have problems with:
- speech, with the first word coming as late as 3 years of age
- motor skills such as walking and toilet training
- doing activities such as drawing or puzzles
However, children with Williams syndrome often have well-developed skills in language and music, as well as outgoing, social personalities.
They might have a distinctive appearance — a broad forehead, a small, upturned nose, a wide mouth with full lips, a small chin and problems with their teeth. They might also have weak muscles. They might also have weak muscles, be shorter than other family members or have dental problems.
Children might show certain behaviours, including:
- anxiety and phobias
- attention deficit hyperactivity disorder (ADHD)
- being very friendly and trusting strangers
- not having inhibitions, difficulty reading social cues
- having lots of tantrums
People with Williams syndrome are likely to develop health problems in later life, including problems with their heart, thyroid gland, diabetes, vision or hearing, or too much calcium in their blood.
How is Williams syndrome diagnosed?
Williams syndrome is diagnosed by observing and examining the child and also by using genetic testing. A doctor may notice the distinctive physical features, heart problems and developmental delay, and then use genetic testing to confirm the diagnosis.
Living with Williams syndrome
There is no cure for Williams syndrome and treatment focuses on managing each child’s symptoms.
Early intervention is important in order to get the right support. If you have a child with the condition, this will usually include your child seeing a mix of health professionals such as paediatricians, speech pathologists, physiotherapists and occupational therapists.
Williams syndrome and adult life
People with Williams syndrome can live active and fulfilling adult lives. Some people will find paid work, and some will be able to live semi-independently.
