Williams Syndrome is a sporadic congenital syndrome due to a microdeletion of chromosome 7 (7q11, 23) at the elastin gene focus. There is a typical facies and global development delay. There may be abnormalities of calcium metabolism and problems may occur in any of the major systems.

Features include facial similarities (prominent cheeks, upturned nose, wide mouth, irregular teeth). Children may have a heart problem, typically supravalvular aortic stenosis, peripheral pulmonary artery stenosis, or both. These heart murmurs are often present at birth. Some children develop hypercalcaemia, usually within the first 2 years of life. This may cause failure to thrive, feeding problems, irritability, vomiting, constipation and kidney problems.

Behaviour problems, hyperactivity, short attention span and obsessional behaviour occur. . Hypersensitivity to loud noises (hyperacusis) is reported in 90% of children. Many of the children are hypersensitive to particular sounds, including electrical noises like vacuum cleaners and drills, and sudden loud noises like thunder.

Peculiar to the syndrome is an increased verbal ability in comparison to other cognitive skills. However, despite their relatively good verbal and social skills, most adults with Williams syndrome are unable to live independently. This is most likely due to their characteristic over-friendliness and social disinihibition, their limited social awareness, distractibility and high levels of anxiety and fearfulness.

Inheritance patterns: Most cases are sporadic and presumed to be new mutations. Affected individuals would be expected to display autosomal dominant inheritance.

Pre-Natal diagnosis: None available

Further information available from:

Williams Syndrome Foundation Ltd,
161 High street
Tonbridge
TN9 BX
(Tel: 01732 365152  Fax: 01732 360178)

e-mail: john.nelson-wsfoundation@btinternet.com  

 

As Williams Syndrome is a metabolic disease, support and advice are also available from CLIMB. See the Metabolic diseases page.

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The Williams Syndrome Foundation is a Registered Charity No. 281014 and was established in 1980. It offers:

• Parent contact and support through a network of regional groups
• Information and advice about the condition
• Financial help to attend meetings, if necessary
• Holiday weeks for unaccompanied affected people and families

Activities:

• National and regional meetings
• Research into the cause of Williams Syndrome/Infantile hypercalcaemia

The group represents the families of over 700 affected children and adults.