Elfin facies refers to a characteristic facial appearance seen in certain rare congenital syndromes.
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Terminology
Elfin facies is sometimes used synonymously with Williams syndrome and the latter is occasionally called elfin facies syndrome. However elfin facies is seen with other rare genetic conditions, in particular Donohue syndrome.
Clinical presentation
The facial appearance is characteristic and includes:
- short, upturned nose
- broad mouth
- widely-spaced eyes (orbital hypertelorism)
- puffed-out cheeks