Paediatrics, what is Williams Syndrome?
Williams Syndrome is a rather rare disease (it has an incidence of one case per 20,000 births) that affects children. It is not hereditary, nor is it due to medical, environmental or psychosocial factors
First described in 1961 by Dr J.C.P. Williams, a cardiologist from New Zealand
The cause is a micro-lesion in the gene, located within chromosome 7, that regulates elastin synthesis.
This is a protein distributed in various tissues of the body whose lack of production causes serious problems in the heart and joints, also affecting the physical appearance of sufferers.
How Williams Syndrome manifests itself
Patients with Williams Syndrome have a small head (microcephaly) with a wide forehead, epicanthus (the presence of a sickle-shaped skin fold at the inner corner of the eye), starry iris (predominantly blue), squinting, upturned nose, ‘droopy’ cheeks, thick lips, pointed chin, dental abnormalities, and a hoarse voice.
The disease affects several areas of development including cognitive, behavioural and motor development.
Most infants with Williams syndrome have difficulties with motor skills from the first months of life and start walking late due to a combination of factors such as coordination, balance and strength.
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From a cognitive point of view, it is not possible to generalise: some children show average or slightly below average levels of intelligence showing learning difficulties.
Others are on the borderline of mild retardation and show significant differentiation in the development of abilities in the different learning spheres.
Children with Williams syndrome are sociable and communicative from childhood onwards: even when they are unable, fully or partially, to use language (they start speaking later than normal children) they express themselves with gestures.
They often display characteristics of hyperactivity.
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