elfin facies syndrome meaning

A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23,encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS,SUPRAVALVULAR),MENTAL RETARDATION,elfin facies,impaired visuospatial constructive abilities,and transient hypercalcemia in infancy. The condition affects both sexes,with onset at birth or in early infancy.

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