Williams syndrome

Question 1

Cause

Answer 1

Also known:

idiopathic hypercalcaemia

or

elfin face syndrome

• unknown cause

Question 2

Features

Answer 2

Distinctive elfin appearance

• mild pre- and postnatal growth retardation
• mild microcephaly
• mild to moderate development delay

In the first 2 yrs of life:

• feeding problems
• vomiting, irritability
• hyperacusis
• constipation
• failure to thrive may lead to presentation

Children are rarely diagnosed at this stage.

Aortic stenosis is a feature.