Williams syndrome

Prevalence and causes

This syndrome, also known as 'hypercalcaemia with supravalvular aortic stenosis and unusual facies' and 'idiopathic infantile hypercalcaemia' is a rare condition which affects approximately 1 in 55 000 live births, and is inherited in an autosomal dominant fashion, (35,) although often being a sporadic event. The precise cause of this condition is unknown (some have recently suggested a deletion of one elastin allele at chromosome 7q11.23), although some have been related to excessive maternal vitamin D intake. It is estimated that the risk for siblings of an isolated case is probably 10 per cent at most.

Clinical features

Infants affected by this condition are usually irritable, have feeding problems, and fail to thrive, and as a result become developmentally delayed and have retarded growth. The majority of these subjects have a mild to moderate degree of mental retardation (IQ ranges between 40 and 80 with an average of 56). Other characteristic features include a distinctive 'elfin-like face', renal and cardiovascular abnormalities such as supravalvular aortic stenosis, nephrocalcinosis, asymmetric kidneys, bladder diverticula, urethral stenosis, and peripheral pulmonary artery stenosis. In over half the cases, serum calcium level is raised. Other clinical features include epicanthic folds, anteverted nostrils, long philtrum, prominent lips with open mouth, hallux valgus, partial anodontia, and kyphoscoliosis.

Behavioural symptoms

A possible behavioural phenotype associated with Williams syndrome has been reported. (36) Affected children show a distinctive pattern of cognitive deficit, in that their verbal ability is markedly superior to their visuospatial and motor abilities. Affected infants show abnormal attachment behaviour expressed as anxiety, and as they grow older they develop higher rates of emotional and behavioural disturbance in the form of overactivity, poor concentration, eating and sleeping difficulties, excessive anxiety, and poor relationship with peers. Some become highly sensitive to a variety of noises and can show social disinhibition and excessive friendliness to adults including strangers. These children are usually fearful, overanxious, show mannerisms, and are fussy both at school and at home.

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